Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E208G
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GJB1

NM_000166.6:p.E208G

Associated Papers

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.

Kochanski A et al.

Human Mutation, 2001

[Charcot-Marie-Tooth disease].

Hausmanowa-Petrusewicz I et al.

Rozprawy Wydzialu Nauk Medycznych, 1966

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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."