Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I213V
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GJB1

NM_000166.6:p.I213V

Associated Papers

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Barbat du Closel L et al.

European Journal of Neurology, 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

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

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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."