Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L80fs
Back to variants list

PMP22

NM_000304.4:p.L80fs

Associated Papers

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.

Plante-Bordeneuve V et al.

Muscle & Nerve, 2002

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C et al.

Human Mutation, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."