Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Q57*
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GJB1

NM_000166.6:p.Q57*

Associated Papers

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.

Yoshimoto Y et al.

Internal Medicine (tokyo, Japan), 2024

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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."