Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.R640H
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ACTN2

NM_001103.4:p.R640H

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Li W et al.

Stroke and Vascular Neurology, 2024

37495379 (PubMed )
Supplement: svn-2022-002158supp001.pdf

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

36116040 (PubMed )
Supplement: HUMU-43-1745-s002.xlsx › Sheet2
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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."