Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T185I
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GJB1

NM_000166.6:p.T185I

Associated Papers

Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.

Guo J et al.

Neurobiology of Disease, 2026

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."