Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S26_Q27Splc
Back to variants list

PMP22

NM_000304.4:p.S26_Q27Splc

Associated Papers

Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.

Kawamoto N et al.

Journal of the Peripheral Nervous System : Jpns, 2023

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Pou Serradell A et al.

Revue Neurologique, 2002

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J et al.

Neuromuscular Disorders : Nmd, 2001

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."