Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.K74insFs
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ANKRD1

NM_014391.3:p.K74insFs

Associated Papers

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

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

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

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

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation.

van Velzen HG et al.

Circulation. Cardiovascular Genetics, 2017

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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."