Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R142G
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GJB1

NM_000166.6:p.R142G

Associated Papers

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

Dubourg O et al.

Neuromuscular Disorders : Nmd, 2001

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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."