Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.T288fs
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GDAP1

NM_018972.4:p.T288fs

Associated Papers

Mitochondria and peripheral neuropathies.

Vital A et al.

Journal of Neuropathology and Experimental Neurology, 2012

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

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R et al.

Journal of Medical Genetics, 2005

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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."