Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T8S
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GJB1

NM_000166.6:p.T8S

Associated Papers

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Ouyang ZY et al.

Chinese Medical Journal, 2020

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A et al.

Brain : a Journal of Neurology, 2003

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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."