Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.A61fs
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HSPB1

NM_001540.5:p.A61fs

Associated Papers

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

Small heat shock proteins in neurodegenerative diseases.

Vendredy L et al.

Cell Stress & Chaperones, 2020

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Adriaenssens E et al.

Brain : a Journal of Neurology, 2017

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."