Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V74M
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GJB1

NM_000166.6:p.V74M

Associated Papers

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

Liu L et al.

Clinical Genetics, 2017

X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.

Shahrizaila N et al.

Muscle & Nerve, 2014

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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."