Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.I252M
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ACTC1

NM_005159.5:p.I252M

Associated Papers

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics.

Keyt LK et al.

Frontiers in Cardiovascular Medicine, 2022

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

Ware SM et al.

Journal of the American Heart Association, 2021

33906374 (PubMed )
Supplement: JAH3-10-e017731-s001.xlsx › Supplemental_Table_S4a

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4

Genetic testing for dilated cardiomyopathy in clinical practice.

Lakdawala NK et al.

Journal of Cardiac Failure, 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."