Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R164L
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GJB1

NM_000166.6:p.R164L

Associated Papers

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.

Pisciotta C et al.

European Journal of Neurology, 2023

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Panosyan FB et al.

Neurology, 2017

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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."