Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.R120W
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PMP22

NM_000304.4:p.R120W

Associated Papers

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

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

Kim HS et al.

Journal of Clinical Neurology (seoul, Korea), 2021

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Cassereau J et al.

Experimental Neurology, 2011

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.

Züchner S et al.

Nature Clinical Practice. Neurology, 2006

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R et al.

Journal of Medical Genetics, 2005

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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."