Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.A115V
Back to variants list

PMP22

NM_000304.4:p.A115V

Associated Papers

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Iscience, 2024

Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy.

Pashkova N et al.

Biorxiv : the Preprint Server for Biology, 2024

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.

Kumar CV et al.

Advances in Bioinformatics, 2014

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."