Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.I186delFs
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GDAP1

NM_018972.4:p.I186delFs

Associated Papers

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

Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.

Benson B et al.

The Laryngoscope, 2010

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

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Stojkovic T et al.

Neuromuscular Disorders : Nmd, 2004

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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."