Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.Y124C
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GDAP1

NM_018972.4:p.Y124C

Associated Papers

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

Li Z et al.

Journal of the Peripheral Nervous System : Jpns, 2024

[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

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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."