Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.M169fs
Back to variants list

HSPB1

NM_001540.5:p.M169fs

Associated Papers

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.

Capponi S et al.

Human Mutation, 2016

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 2016

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E et al.

Bba Clinical, 2015

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."