Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.S369L
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ACTN2

NM_001103.4:p.S369L

Associated Papers

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

36116040 (PubMed )
Supplement: HUMU-43-1745-s001.xlsx › Sheet1

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

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Codina-Sola M et al.

Journal of Medical Genetics, 2019

31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly
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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."