Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S182fs
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GJB1

NM_000166.6:p.S182fs

Associated Papers

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

Barbat du Closel L et al.

European Journal of Neurology, 2023

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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."