Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.A336S
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GDAP1

NM_018972.4:p.A336S

Associated Papers

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

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants.

Jerath NU

Case Reports in Medicine, 2022

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C et al.

Cell Reports, 2015

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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."