Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.T139A
Back to variants list

HSPB1

NM_001540.5:p.T139A

Associated Papers

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

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

Juneja M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

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."