Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.G327D
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GDAP1

NM_018972.4:p.G327D

Associated Papers

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

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.

Binięda K et al.

International Journal of Molecular Sciences, 2021

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.

Rzepnikowska W et al.

Genes, 2020

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J et al.

Journal of Neurology, 2017

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.

Kabzińska D et al.

Neurogenetics, 2011

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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."