Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.T1046M
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MYBPC3

NM_000256.3:p.T1046M

Associated Papers

Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy.

Chung H et al.

Korean Circulation Journal, 2025

40736383 (PubMed )
Supplement: kcj-55-1001-s006.xls › kcj-55-1001-s006

Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.

Cianci V et al.

International Journal of Molecular Sciences, 2024

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8

Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope.

Lee SH et al.

Journal of Cardiovascular Development and Disease, 2022

36005429 (PubMed )
Supplement: jcdd-09-00265-s001.zip › jcdd-1819276-supplementary.pdf

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

Heat shock proteins and small nucleolar RNAs are dysregulated in a Drosophila model for feline hypertrophic cardiomyopathy.

Tallo CA et al.

G3 (bethesda, Md.), 2021

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Chahal CAA et al.

Journal of the American Heart Association, 2020

Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy.

Hata Y et al.

Journal of Clinical Medicine, 2019

Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.

Teramoto R et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2018

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Proteasome dysfunction in cardiomyopathies.

Gilda JE et al.

The Journal of Physiology, 2017

Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing.

Hata Y et al.

Brain Pathology (zurich, Switzerland), 2017

Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.

Hata Y et al.

Heart Rhythm, 2016

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.

Kadota C et al.

Journal of Human Genetics, 2015

Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

Kapplinger JD et al.

Journal of Cardiovascular Translational Research, 2014

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Inclusion body myositis coexisting with hypertrophic cardiomyopathy: an autopsy study.

Inamori Y et al.

Neuromuscular Disorders : Nmd, 2012

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

Bahrudin U et al.

Journal of Molecular Biology, 2008

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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."