Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.A175P
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GDAP1

NM_018972.4:p.A175P

Associated Papers

Relationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.

Borisova NR et al.

Biochemistry. Biokhimiia, 2025

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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."