Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L239F
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GJB1

NM_000166.6:p.L239F

Associated Papers

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C et al.

Advances in Experimental Medicine and Biology, 2012

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

Fusco C et al.

Journal of Child Neurology, 2011

GDAP1 mutations in Czech families with early-onset CMT.

Baránková L et al.

Neuromuscular Disorders : Nmd, 2007

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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."