Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.E114_S115delFs
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GDAP1

NM_018972.4:p.E114_S115delFs

Associated Papers

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Cassereau J et al.

Experimental Neurology, 2011

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

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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."