Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.H558R
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ACTN2

NM_001103.4:p.H558R

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

Biology of cardiac sodium channel Nav1.5 expression.

Rook MB et al.

Cardiovascular Research, 2012

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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."