Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R32ins2
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GJB1

NM_000166.6:p.R32ins2

Associated Papers

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Vazza G et al.

Neuromuscular Disorders : Nmd, 2006

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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."