Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.A156T
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GDAP1

NM_018972.4:p.A156T

Associated Papers

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.

Chen CX et al.

Annals of Clinical and Translational Neurology, 2020

Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.

Fu J et al.

Neuromuscular Disorders : Nmd, 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."