Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.D129H
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GDAP1

NM_018972.4:p.D129H

Associated Papers

GDAP1-Related Charcot-Marie-Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?

Ravanbod M et al.

Journal of the Peripheral Nervous System : Jpns, 2025

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

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F et al.

Journal of the Peripheral Nervous System : Jpns, 2014

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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."