Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S42C
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GJB1

NM_000166.6:p.S42C

Associated Papers

[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].

Tachibana H et al.

Rinsho Shinkeigaku = Clinical Neurology, 2025

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.

Yuan JH et al.

European Journal of Neurology, 2018

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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."