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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1998 | 1 |
2002 | 1 |
2003 | 2 |
2009 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840.
Nat Genet. 1998.
PMID: 9843209
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL, Zicha D, Kelsell DP.
Di WL, et al.
Hum Mol Genet. 2002 Aug 15;11(17):2005-14. doi: 10.1093/hmg/11.17.2005.
Hum Mol Genet. 2002.
PMID: 12165562
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Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Rodeck U, Uitto J, Richard G.
Rouan F, et al.
Exp Dermatol. 2003 Apr;12(2):191-7. doi: 10.1034/j.1600-0625.2003.120210.x.
Exp Dermatol. 2003.
PMID: 12702148
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EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D, Scott CA, Gray C, Zicha D, Kelsell DP.
Tattersall D, et al.
Hum Mol Genet. 2009 Dec 15;18(24):4734-45. doi: 10.1093/hmg/ddp436. Epub 2009 Sep 14.
Hum Mol Genet. 2009.
PMID: 19755382
Free PMC article.
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Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J.
Richard G, et al.
J Invest Dermatol. 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x.
J Invest Dermatol. 2003.
PMID: 12648223
Free article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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