Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L9W
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GJB1

NM_000166.6:p.L9W

Associated Papers

Lipid dependence of connexin-32 gap junction channel conformations.

Lavriha P et al.

Nature Communications, 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

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

Panosyan FB et al.

Neurology, 2017

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

Nicholson GA et al.

Neurology, 1998

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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."