Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.I591V
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ACTN2

NM_001103.4:p.I591V

Associated Papers

Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.

Fan LL et al.

Cytogenetic and Genome Research, 2019

Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.

Shanks GW et al.

Circulation. Cardiovascular Genetics, 2017

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

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

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
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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."