Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.A204insFs
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HSPB1

NM_001540.5:p.A204insFs

Associated Papers

Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.

Aynaashe A et al.

Amino Acids, 2026

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

35281256 (PubMed )
Supplement: DataSheet1.docx

[Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].

Chen J et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1.

Capponi S et al.

Human Mutation, 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."