Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.D129E
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HSPB1

NM_001540.5:p.D129E

Associated Papers

Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.

Benndorf R et al.

Cell Stress & Chaperones, 2022

35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf

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

The expanding genetic landscape of hereditary motor neuropathies.

Beijer D et al.

Brain : a Journal of Neurology, 2020

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

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

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

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ et al.

Neurology. Genetics, 2016

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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."