Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.R22Q
Back to variants list

HSPB8

NM_014365.3:p.R22Q

Associated Papers

The Spectrum of Small Heat Shock Protein B8 (HSPB8)-Associated Neuromuscular Disorders.

Rashed HR et al.

International Journal of Molecular Sciences, 2025

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

Frasquet M et al.

European Journal of Neurology, 2021

Complete response to anti-PD-L1 antibody in a metastatic bladder cancer associated with novel MSH4 mutation and microsatellite instability.

Yang Y et al.

Journal for Immunotherapy of Cancer, 2020

32221012 (PubMed )
Supplement: jitc-2019-000128supp001.xlsx › Clean
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."