Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.D545N
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MYH7

NM_000257.4:p.D545N

Associated Papers

Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Seidel F et al.

Journal of Cardiovascular Development and Disease, 2022

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYH7

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American College of Cardiology, 2018

Chemotherapy-Related Cardiac Dysfunction: A Systematic Review of Genetic Variants Modulating Individual Risk.

Linschoten M et al.

Circulation. Genomic and Precision Medicine, 2018

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy.

Petropoulou E et al.

European Journal of Medical Genetics, 2017

The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2016

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.

Olivotto I et al.

Cardiovascular Research, 2015

Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.

Chang B et al.

Molecular Genetics and Metabolism, 2011

Familial dilated cardiomyopathy: another risk factor for anthracycline-induced cardiotoxicity?

van den Berg MP et al.

European Journal of Heart Failure, 2010

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM et al.

Circulation. Cardiovascular Genetics, 2010

20530761 (PubMed )
Supplement: 903898_supplemental_material.pdf

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Dellefave LM et al.

Circulation. Cardiovascular Genetics, 2009

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

Sarcomere mutations in cardiogenesis and ventricular noncompaction.

McNally E et al.

Trends in Cardiovascular Medicine, 2009

Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart.

Dellefave L et al.

Circulation, 2008

Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology.

Zaragoza MV et al.

Current Opinion in Pediatrics, 2007

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.

Hoedemaekers YM et al.

European Heart Journal, 2007

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.

Wasielewski M et al.

Open Heart, 0

Heritability in genetic heart disease: the role of genetic background.

Jansweijer JA et al.

Open Heart, 0

31245010 (PubMed )
Supplement: openhrt-2018-000929supp001.pdf
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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."