Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q689_G690Splc
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MYBPC3

NM_000256.3:p.Q689_G690Splc

Associated Papers

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis.

Jeong HE et al.

Scientific Reports, 2025

41469780 (PubMed )
Supplement: 41598_2025_33901_MOESM8_ESM.xlsx › TableS1

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

High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.

Ryu SW et al.

Frontiers in Cardiovascular Medicine, 2024

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Kim Y et al.

Human Genetics, 2023

37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Kim MJ et al.

Bmc Medical Genomics, 2023

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

Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.

Glavaški M et al.

Medicina (kaunas, Lithuania), 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5

Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.

Lee JH et al.

International Journal of Heart Failure, 2022

Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2021

33407484 (PubMed )
Supplement: 12947_2020_233_MOESM1_ESM.docx

Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Kim HY et al.

Journal of Clinical Medicine, 2020

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy.

Chung H et al.

Cardiovascular Ultrasound, 2019

31660989 (PubMed )
Supplement: 12947_2019_171_MOESM2_ESM.docx

Genetic basis of hypertrophic cardiomyopathy in children.

Rupp S et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf

Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.

Funada A et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2010

Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis.

Konno T et al.

Clinical Science (london, England : 1979), 2007

A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.

Konno T et al.

Clinical Science (london, England : 1979), 2006

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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."