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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB4

Variant:p.C86R

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GJB4

NM_153212.3:p.C86R

hg38:chr1:34761510 T>C

Associated Papers

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.

Sbidian E et al.

Acta Dermato-venereologica, 2013

23037955 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."