Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R945delFs
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MYBPC3

NM_000256.3:p.R945delFs

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

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 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

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

Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.

Saito T et al.

Esc Heart Failure, 2021

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

Moriki T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2021

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

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

Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.

Nakashima Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

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

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

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

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

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_S1B

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

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