Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.R56Q
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CRYAB

NM_001289808.2:p.R56Q

Associated Papers

The role of the N-terminal p.R56Q mutation in modulating oligomerization and chaperone activity of human αB-crystallin in relation to cardiomyopathy.

Somee LR et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025

The p.P51L mutation in human HspB5: Structural and functional changes linked to cardiomyopathy and cataract pathogenesis.

Somee LR et al.

International Journal of Biological Macromolecules, 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."