Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.P39L
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HSPB8

NM_014365.3:p.P39L

Associated Papers

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

Small Heat Shock Proteins and Human Neurodegenerative Diseases.

Muranova LK et al.

Biochemistry. Biokhimiia, 2019

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

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2015

Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.

Muranova LK et al.

Plos One, 2015

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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."