Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L117P
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GJB1

NM_000166.6:p.L117P

Associated Papers

[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].

Li G et al.

Zhonghua Yi Xue Za Zhi, 2025

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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."