Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.S156Y
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HSPB1

NM_001540.5:p.S156Y

Associated Papers

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Adriaenssens E et al.

Brain : a Journal of Neurology, 2017

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.

Almeida-Souza L et al.

The Journal of Biological Chemistry, 2010

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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."