Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.K92K
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PMP22

NM_000304.4:p.K92K

Associated Papers

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO et al.

Human Mutation, 2004

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.

Yoshihara T et al.

Journal of the Peripheral Nervous System : Jpns, 2002

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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."