Associated Papers
Mutation update for the ACTN2 gene.
Ranta-Aho J et al.
Human Mutation, 2022
36116040 (PubMed )
Supplement: HUMU-43-1745-s002.xlsx › Sheet2
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
Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience.
Quenin P et al.
Circulation. Arrhythmia and Electrophysiology, 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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