Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.A1443D
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MYH6

NM_002471.4:p.A1443D

Associated Papers

Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.

Rao VJ et al.

Journal of the American Heart Association, 2025

41128141 (PubMed )
Supplement: JAH3-14-e042036-s001.pdf

MYH6 Variants Are Associated with Atrial Dysfunction in Neonates with Hypoplastic Left Heart Syndrome.

Quintanilla Anfinson M et al.

Genes, 2024

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

Slavotinek AM et al.

Hgg Advances, 2024

38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2

Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report.

Najib B et al.

Bmc Cardiovascular Disorders, 2023

Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Anfinson M et al.

Journal of Cardiovascular Development and Disease, 2022

Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta.

Zhu W et al.

Genes, 2022

35456442 (PubMed )
Supplement: genes-13-00636-s001.zip › genes-1623476-supplementary.pdf

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.

Theis JL et al.

Circulation. Genomic and Precision Medicine, 2021

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_6.xlsx › SNVs_Exome_Sequencing

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7

Impact of MYH6 variants in hypoplastic left heart syndrome.

Tomita-Mitchell A et al.

Physiological Genomics, 2016

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Heavy and light roles: myosin in the morphogenesis of the heart.

England J et al.

Cellular and Molecular Life Sciences : Cmls, 2013

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG et al.

Plos One, 2011

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

Granados-Riveron JT et al.

Human Molecular Genetics, 2010

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT et al.

Congenital Heart Disease, 0

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