Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.R75H
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HSPB1

NM_001540.5:p.R75H

Associated Papers

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

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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."