Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.P119T
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GDAP1

NM_018972.4:p.P119T

Associated Papers

Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.

Cavalcanti EBU et al.

Arquivos De Neuro-psiquiatria, 2023

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

Uchôa Cavalcanti EB et al.

Journal of the Peripheral Nervous System : Jpns, 2021

GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.

Figueiredo FB et al.

Neuromuscular Disorders : Nmd, 2021

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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."