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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.V37delFs

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GJB1

NM_000166.6:p.V37delFs

hg38:chrX:71223816 GT>G

Associated Papers

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.

Lin P et al.

Muscle & Nerve, 2010

21104867 (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."