Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.E126K
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GDAP1

NM_018972.4:p.E126K

Associated Papers

Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.

Cantarero L et al.

Biomolecules, 2026

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

[Analysis of GDAP1 gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease].

Qin L et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2019

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura A et al.

Clinical Genetics, 2017

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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."