Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.M1insFs
Back to variants list

PMP22

NM_000304.4:p.M1insFs

Associated Papers

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.

Hauw F et al.

European Journal of Neurology, 2021

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

Tilghman JM et al.

The New England Journal of Medicine, 2019

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."