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{{Infobox_gene}}
{{PBB_Controls
'''Voltage-dependent L-type calcium channel subunit beta-2''' is a [[protein]] that in humans is encoded by the ''CACNB2'' [[gene]].<ref name="pmid9254841">{{cite journal | vauthors = Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P | title = Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23 | journal = Hum Genet | volume = 100 | issue = 2 | pages = 151–4 |date=Sep 1997 | pmid = 9254841 | pmc =  | doi =10.1007/PL00008704 }}</ref><ref name="pmid8494331">{{cite journal | vauthors = Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM | title = Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen | journal = Ann Neurol | volume = 33 | issue = 1 | pages = 113–20 |date=Jun 1993 | pmid = 8494331 | pmc =  | doi = 10.1002/ana.410330126 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=783| accessdate = }}</ref>
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{{GNF_Protein_box
| image = PBB_Protein_CACNB2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1t0h.
| PDB = {{PDB2|1t0h}}, {{PDB2|1t0j}}
| Name = Calcium channel, voltage-dependent, beta 2 subunit
| HGNCid = 1402
| Symbol = CACNB2
| AltSymbols =; CACNLB2; FLJ23743; MYSB
| OMIM = 600003
| ECnumber =
| Homologene = 75191
| MGIid = 894644
| GeneAtlas_image1 = PBB_GE_CACNB2_207776_s_at_tn.png
  | GeneAtlas_image2 = PBB_GE_CACNB2_213714_at_tn.png
  | Function = {{GNF_GO|id=GO:0005245 |text = voltage-gated calcium channel activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0005891 |text = voltage-gated calcium channel complex}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006816 |text = calcium ion transport}} {{GNF_GO|id=GO:0007528 |text = neuromuscular junction development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 783
    | Hs_Ensembl = ENSG00000165995
    | Hs_RefseqProtein = NP_000715
    | Hs_RefseqmRNA = NM_000724
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 18469612
    | Hs_GenLoc_end = 18870797
    | Hs_Uniprot = Q08289
    | Mm_EntrezGene = 12296
    | Mm_Ensembl = ENSMUSG00000057914
    | Mm_RefseqmRNA = NM_023116
    | Mm_RefseqProtein = NP_075605
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 14522205
    | Mm_GenLoc_end = 14903830
    | Mm_Uniprot = Q32MF3
  }}
}}
'''Calcium channel, voltage-dependent, beta 2 subunit''', also known as '''CACNB2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=783| accessdate = }}</ref>


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| summary_text =  
| summary_text =  
}}
}}
== Clinical significance ==
Mutation in the CACNB2 gene are  associated with [[Brugada syndrome]], [[autism]], [[attention deficit-hyperactivity disorder]] (ADHD), [[bipolar disorder]], [[major depressive disorder]], and [[schizophrenia]].<ref>{{Cite journal | title = Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis | doi = 10.1016/S0140-6736(12)62129-1 | journal = The Lancet | year = 2013 | pmid =  23453885| pmc = 3714010| volume=381| issue=9875| pages=1371–9}}</ref>


==See also==
==See also==
Line 59: Line 16:


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Williams ME, Feldman DH, McCue AF, ''et al.'' |title=Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype. |journal=Neuron |volume=8 |issue= 1 |pages= 71-84 |year= 1992 |pmid= 1309651 |doi= }}
*{{cite journal  | author=Williams ME |title=Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype |journal=Neuron |volume=8 |issue= 1 |pages= 71–84 |year= 1992 |pmid= 1309651 |doi=10.1016/0896-6273(92)90109-Q |name-list-format=vanc| author2=Feldman DH  | author3=McCue AF | display-authors=3  | last4=Brenner  | first4=Robert  | last5=Velicelebi  | first5=Gonul  | last6=Ellis  | first6=Steven B.  | last7=Harpold  | first7=Michael M. }}
*{{cite journal | author=Brust PF, Simerson S, McCue AF, ''et al.'' |title=Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly. |journal=Neuropharmacology |volume=32 |issue= 11 |pages= 1089-102 |year= 1994 |pmid= 8107964 |doi=  }}
*{{cite journal  | author=Brust PF |title=Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly |journal=Neuropharmacology |volume=32 |issue= 11 |pages= 1089–102 |year= 1994 |pmid= 8107964 |doi=10.1016/0028-3908(93)90004-M |name-list-format=vanc| author2=Simerson S  | author3=McCue AF  | display-authors=3  | last4=Deal  | first4=Charles R.  | last5=Schoonmaker  | first5=Susan  | last6=Williams  | first6=Mark E. | last7=Veliçelebi | first7=Gönül  | last8=Johnson  | first8=Edwin C. | last9=Harpold  | first9=Michael M. }}
*{{cite journal  | author=Rosenfeld MR, Wong E, Dalmau J, ''et al.'' |title=Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. |journal=Ann. Neurol. |volume=33 |issue= 1 |pages= 113-20 |year= 1993 |pmid= 8494331 |doi= 10.1002/ana.410330126 }}
*{{cite journal  | author=Hillier LD |title=Generation and analysis of 280,000 human expressed sequence tags |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=10.1101/gr.6.9.807 |name-list-format=vanc| author2=Lennon G | author3=Becker M  | display-authors=3  | last4=Bonaldo  | first4=M F  | last5=Chiapelli  | first5=B  | last6=Chissoe  | first6=S  | last7=Dietrich | first7=N | last8=Dubuque  | first8=T  | last9=Favello  | first9=A }}
*{{cite journal | author=Hillier LD, Lennon G, Becker M, ''et al.'' |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807-28 |year= 1997 |pmid= 8889549 |doi=  }}
*{{cite journal  | author=Volsen SG |title=The expression of voltage-dependent calcium channel beta subunits in human cerebellum |journal=Neuroscience |volume=80 |issue= 1 |pages= 161–74 |year= 1997 |pmid= 9252229 |doi=10.1016/S0306-4522(97)00115-2 |name-list-format=vanc| author2=Day NC  | author3=McCormack AL  | display-authors=3  | last4=Smith  | first4=W  | last5=Craig | first5=PJ  | last6=Beattie  | first6=RE  | last7=Smith | first7=D  | last8=Ince  | first8=PG  | last9=Shaw  | first9=PJ  }}
*{{cite journal | author=Volsen SG, Day NC, McCormack AL, ''et al.'' |title=The expression of voltage-dependent calcium channel beta subunits in human cerebellum. |journal=Neuroscience |volume=80 |issue= 1 |pages= 161-74 |year= 1997 |pmid= 9252229 |doi=  }}
*{{cite journal  | vauthors=Robertson HM, Zumpano KL |title=Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome |journal=Gene |volume=205 |issue= 1–2 |pages= 203–17 |year= 1998 |pmid= 9461395 |doi=10.1016/S0378-1119(97)00472-1  }}
*{{cite journal  | author=Taviaux S, Williams ME, Harpold MM, ''et al.'' |title=Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23. |journal=Hum. Genet. |volume=100 |issue= 2 |pages= 151-4 |year= 1997 |pmid= 9254841 |doi=  }}
*{{cite journal  | vauthors=Allen TJ, Mikala G |title=Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes |journal=Pflügers Arch. |volume=436 |issue= 2 |pages= 238–47 |year= 1998 |pmid= 9594024 |doi=10.1007/s004240050628 }}
*{{cite journal | author=Robertson HM, Zumpano KL |title=Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome. |journal=Gene |volume=205 |issue= 1-2 |pages= 203-17 |year= 1998 |pmid= 9461395 |doi=  }}
*{{cite journal  | author=Day NC |title=The expression of voltage-dependent calcium channel beta subunits in human hippocampus |journal=Brain Res. Mol. Brain Res. |volume=60 |issue= 2 |pages= 259–69 |year= 1998 |pmid= 9757060 |doi=10.1016/S0169-328X(98)00186-7 |name-list-format=vanc| author2=Volsen SG | author3=McCormack AL  | display-authors=3  | last4=Craig  | first4=PJ  | last5=Smith  | first5=W  | last6=Beattie  | first6=RE  | last7=Shaw  | first7=PJ  | last8=Ellis  | first8=SB  | last9=Harpold  | first9=MM  }}
*{{cite journal | author=Allen TJ, Mikala G |title=Effects of temperature on human L-type cardiac Ca2+ channels expressed in Xenopus oocytes. |journal=Pflugers Arch. |volume=436 |issue= 2 |pages= 238-47 |year= 1998 |pmid= 9594024 |doi=  }}
*{{cite journal  | vauthors=Brice NL, Dolphin AC |title=Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line |journal=J. Physiol. |volume=515 |issue=  3|pages= 685–94 |year= 1999 |pmid= 10066897 |doi=10.1111/j.1469-7793.1999.685ab.x  | pmc=2269176  }}
*{{cite journal  | author=Day NC, Volsen SG, McCormack AL, ''et al.'' |title=The expression of voltage-dependent calcium channel beta subunits in human hippocampus. |journal=Brain Res. Mol. Brain Res. |volume=60 |issue= 2 |pages= 259-69 |year= 1998 |pmid= 9757060 |doi= }}
*{{cite journal  | vauthors=Gerhardstein BL, Puri TS, Chien AJ, Hosey MM |title=Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels |journal=Biochemistry |volume=38 |issue= 32 |pages= 10361–70 |year= 1999 |pmid= 10441130 |doi= 10.1021/bi990896o }}
*{{cite journal | author=Brice NL, Dolphin AC |title=Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line. |journal=J. Physiol. (Lond.) |volume=515 ( Pt 3) |issue=  |pages= 685-94 |year= 1999 |pmid= 10066897 |doi=  }}
*{{cite journal  | author=Lie AA |title=Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy |journal=Neuroscience |volume=93 |issue= 2 |pages= 449–56 |year= 1999 |pmid= 10465427 |doi=10.1016/S0306-4522(99)00162-1 |name-list-format=vanc| author2=Blümcke I  | author3=Volsen SG  | display-authors=3  | last4=Wiestler  | first4=OD  | last5=Elger  | first5=CE  | last6=Beck  | first6=H  }}
*{{cite journal  | author=Gerhardstein BL, Puri TS, Chien AJ, Hosey MM |title=Identification of the sites phosphorylated by cyclic AMP-dependent protein kinase on the beta 2 subunit of L-type voltage-dependent calcium channels. |journal=Biochemistry |volume=38 |issue= 32 |pages= 10361-70 |year= 1999 |pmid= 10441130 |doi= 10.1021/bi990896o }}
*{{cite journal  | vauthors=Bünemann M, Gerhardstein BL, Gao T, Hosey MM |title=Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit |journal=J. Biol. Chem. |volume=274 |issue= 48 |pages= 33851–4 |year= 1999 |pmid= 10567342 |doi=10.1074/jbc.274.48.33851  }}
*{{cite journal  | author=Lie AA, Blümcke I, Volsen SG, ''et al.'' |title=Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy. |journal=Neuroscience |volume=93 |issue= 2 |pages= 449-56 |year= 1999 |pmid= 10465427 |doi=  }}
*{{cite journal  | author=Yamaguchi H |title=Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit |journal=Biochem. Biophys. Res. Commun. |volume=267 |issue= 1 |pages= 156–63 |year= 2000 |pmid= 10623591 |doi= 10.1006/bbrc.1999.1926  |name-list-format=vanc| author2=Okuda M  | author3=Mikala G  | display-authors=3  | last4=Fukasawa  | first4=K  | last5=Varadi  | first5=G }}
*{{cite journal  | author=Bünemann M, Gerhardstein BL, Gao T, Hosey MM |title=Functional regulation of L-type calcium channels via protein kinase A-mediated phosphorylation of the beta(2) subunit. |journal=J. Biol. Chem. |volume=274 |issue= 48 |pages= 33851-4 |year= 1999 |pmid= 10567342 |doi=  }}
*{{cite journal  | author=Colecraft HM |title=Novel functional properties of Ca2+ channel β subunits revealed by their expression in adult rat heart cells |journal=J. Physiol. |volume=541 |issue= Pt 2 |pages= 435–52 |year= 2002 |pmid= 12042350 |doi=10.1113/jphysiol.2002.018515  | pmc=2290333  |name-list-format=vanc| author2=Alseikhan B  | author3=Takahashi SX  | display-authors=3  | last4=Chaudhuri  | first4=D.  | last5=Mittman  | first5=S.  | last6=Yegnasubramanian  | first6=V.  | last7=Alvania  | first7=R. S  | last8=Johns  | first8=D. C  | last9=Marban  | first9=E.  }}
*{{cite journal | author=Yamaguchi H, Okuda M, Mikala G, ''et al.'' |title=Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit. |journal=Biochem. Biophys. Res. Commun. |volume=267 |issue= 1 |pages= 156-63 |year= 2000 |pmid= 10623591 |doi= 10.1006/bbrc.1999.1926 }}
*{{cite journal  | vauthors=Takahashi SX, Mittman S, Colecraft HM |title=Distinctive Modulatory Effects of Five Human Auxiliary β2 Subunit Splice Variants on L-Type Calcium Channel Gating |journal=Biophys. J. |volume=84 |issue= 5 |pages= 3007–21 |year= 2004 |pmid= 12719232 |doi=10.1016/S0006-3495(03)70027-7  | pmc=1302863  }}
*{{cite journal  | author=Colecraft HM, Alseikhan B, Takahashi SX, ''et al.'' |title=Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells. |journal=J. Physiol. (Lond.) |volume=541 |issue= Pt 2 |pages= 435-52 |year= 2002 |pmid= 12042350 |doi= }}
*{{cite journal  | vauthors=Finlin BS, Crump SM, Satin J, Andres DA |title=Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 24 |pages= 14469–74 |year= 2004 |pmid= 14623965 |doi= 10.1073/pnas.2437756100  | pmc=283615 }}
*{{cite journal  | author=Takahashi SX, Mittman S, Colecraft HM |title=Distinctive modulatory effects of five human auxiliary beta2 subunit splice variants on L-type calcium channel gating. |journal=Biophys. J. |volume=84 |issue= 5 |pages= 3007-21 |year= 2004 |pmid= 12719232 |doi= }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal | author=Finlin BS, Crump SM, Satin J, Andres DA |title=Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 24 |pages= 14469-74 |year= 2004 |pmid= 14623965 |doi= 10.1073/pnas.2437756100 }}
*{{cite journal  | author=Foell JD |title=Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization |journal=Physiol. Genomics |volume=17 |issue= 2 |pages= 183–200 |year= 2004 |pmid= 14762176 |doi= 10.1152/physiolgenomics.00207.2003  |name-list-format=vanc| author2=Balijepalli RC  | author3=Delisle BP  | display-authors=3  | last4=Yunker  | first4=AM  | last5=Robia  | first5=SL  | last6=Walker  | first6=JW  | last7=McEnery  | first7=MW  | last8=January  | first8=CT  | last9=Kamp  | first9=TJ }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Harry JB, Kobrinsky E, Abernethy DR, Soldatov NM |title=New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 46367–72 |year= 2004 |pmid= 15339916 |doi= 10.1074/jbc.M409523200 }}
*{{cite journal  | author=Foell JD, Balijepalli RC, Delisle BP, ''et al.'' |title=Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization. |journal=Physiol. Genomics |volume=17 |issue= 2 |pages= 183-200 |year= 2004 |pmid= 14762176 |doi= 10.1152/physiolgenomics.00207.2003 }}
*{{cite journal  | author=Harry JB, Kobrinsky E, Abernethy DR, Soldatov NM |title=New short splice variants of the human cardiac Cavbeta2 subunit: redefining the major functional motifs implemented in modulation of the Cav1.2 channel. |journal=J. Biol. Chem. |volume=279 |issue= 45 |pages= 46367-72 |year= 2004 |pmid= 15339916 |doi= 10.1074/jbc.M409523200 }}
}}
}}
{{refend}}
{{refend}}


== External links ==
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1517/  GeneReviews/NIH/NCBI/UW entry on Brugada syndrome]
* {{MeshName|CACNB2+protein,+human}}
* {{MeshName|CACNB2+protein,+human}}
* {{UCSC gene info|CACNB2}}
{{PDB Gallery|geneid=783}}
{{Ion channels|g1}}
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[[Category:Ion channels]]


{{membrane-protein-stub}}
{{membrane-protein-stub}}
{{Ion channels}}
[[Category:Ion channels]]
{{WikiDoc Sources}}

Latest revision as of 16:00, 29 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[1][2][3]


Clinical significance

Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.[4]

See also

References

  1. ↑ Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23". Hum Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID 9254841.
  2. ↑ Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol. 33 (1): 113–20. doi:10.1002/ana.410330126. PMID 8494331.
  3. ↑ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
  4. ↑ "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. 2013. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.

Further reading

External links


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