Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD1
Variant:p.P105S
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ANKRD1

NM_014391.3:p.P105S

Associated Papers

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

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

Ankyrin repeat domain 1: A novel gene for cardiac septal defects.

Yang Y et al.

The Journal of Gene Medicine, 2019

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_S12

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

Multifunctional protein: cardiac ankyrin repeat protein.

Zhang N et al.

Journal of Zhejiang University. Science. B, 2016

Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue.

Crocini C et al.

Basic Research in Cardiology, 2013

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Rampersaud E et al.

Progress in Pediatric Cardiology, 2011

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.

Moulik M et al.

Journal of the American College of Cardiology, 2009

Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?

Mestroni L

Journal of the American College of Cardiology, 2009

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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."