Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G159S
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GJB1

NM_000166.6:p.G159S

Associated Papers

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

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P et al.

Neurogenetics, 1997

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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."