Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.P111H
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GDAP1

NM_018972.4:p.P111H

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

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.

Kim HS et al.

Journal of Clinical Neurology (seoul, Korea), 2021

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J et al.

Journal of Neurology, 2017

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

Chung KW et al.

Journal of the Peripheral Nervous System : Jpns, 2011

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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."