Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V170D
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GJB1

NM_000166.6:p.V170D

Associated Papers

Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.

Gong D et al.

The Journal of General Physiology, 2025

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

Kennerson ML et al.

Clinical Chemistry, 2007

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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."