Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C64F
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GJB1

NM_000166.6:p.C64F

Associated Papers

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

Young P et al.

Journal of Neurology, 2001

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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."