Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.Y279C
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GDAP1

NM_018972.4:p.Y279C

Associated Papers

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Ceylan GG et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.

Sutinen A et al.

Febs Open Bio, 2022

35509130 (PubMed )
Supplement: FEB4-12-1306-s001.xlsx › All_mutations

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

Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Sahin-Calapoglu N et al.

Neuromolecular Medicine, 2009

Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.

Rougeot C et al.

Neuropediatrics, 2008

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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."