Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V163M
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GJB1

NM_000166.6:p.V163M

Associated Papers

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F et al.

Brain and Behavior, 2016

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."