Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.L58fs
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HSPB1

NM_001540.5:p.L58fs

Associated Papers

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.

Lim SO et al.

Genes, 2022

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

A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.

Taga A et al.

Journal of the Peripheral Nervous System : Jpns, 2020

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

Echaniz-Laguna A et al.

Human Mutation, 2017

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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."