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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.V74A

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GJB1

NM_000166.6:p.V74A

hg38:chrX:71223928 T>C

Associated Papers

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Liu X et al.

Frontiers in Neurology, 2020

32903794 (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."