Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.L223*
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GDAP1

NM_018972.4:p.L223*

Associated Papers

Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.

Cantarero L et al.

Biomolecules, 2026

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

Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.

Marco A et al.

Molecular Biology and Evolution, 2004

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A et al.

Journal of Medical Genetics, 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."