Varaico: Literature-Extracted Genetic Variants

Gene:HSPB2
Variant:p.P182L
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HSPB2

NM_001541.4:p.P182L

Associated Papers

Insights Into the Role of Heat Shock Protein 27 in the Development of Neurodegeneration.

Holguin BA et al.

Frontiers in Molecular Neuroscience, 2022

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V et al.

Frontiers in Molecular Biosciences, 2016

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2015

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.

Benndorf R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."