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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GJB1

Variant:p.R238C

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GJB1

NM_000166.6:p.R238C

hg38:chrX:71224419 C>T

Associated Papers

Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.

Martikainen MH et al.

Neuromuscular Disorders : Nmd, 2013

23838279 (PubMed )

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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."