Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.R11G
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CRYAB

NM_001289808.2:p.R11G

Associated Papers

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

Application of RNA-seq for single nucleotide variation identification in a cohort of patients with hypertrophic cardiomyopathy.

Chumakova A et al.

Scientific Reports, 2025

Structural characterization and functional analysis of human αB-crystallin with the p.R11G mutation: Insights into cataractogenesis and cardiomyopathy.

Salehi A et al.

International Journal of Biological Macromolecules, 2025

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
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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."