Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.G107Splc
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PMP22

NM_000304.4:p.G107Splc

Associated Papers

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light.

Palu E et al.

Neurogenetics, 2023

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.

Benquey T et al.

Journal of Neuromuscular Diseases, 2020

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.

Liu X et al.

Frontiers in Neurology, 2020

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

Brožková D et al.

Muscle & Nerve, 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."