Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.R27L
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HSPB1

NM_001540.5:p.R27L

Associated Papers

[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

Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.

Katz M et al.

Journal of the Neurological Sciences, 2020

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC et al.

Molecular Genetics & Genomic Medicine, 2017

28717666 (PubMed )
Supplement: MGG3-5-418-s001.xlsx › SuppTable_5_
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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."