Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.P172fs
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HSPB8

NM_014365.3:p.P172fs

Associated Papers

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.

Tedesco B et al.

European Journal of Human Genetics : Ejhg, 2025

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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."