Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.W1098*
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MYBPC3

NM_000256.3:p.W1098*

Associated Papers

A New Era in the Management of Hypertrophic Cardiomyopathy.

Perez-Asensio A et al.

Reviews in Cardiovascular Medicine, 2025

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S2

Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.

Popa-Fotea NM et al.

International Journal of Molecular Sciences, 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

Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy.

Nie J et al.

Gene Therapy, 2023

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L et al.

Jama Cardiology, 2021

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.

Hughes RK et al.

Journal of the American Heart Association, 2021

34310159 (PubMed )
Supplement: JAH3-10-e020227-s001.pdf

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Micheu MM et al.

Diagnostics (basel, Switzerland), 2020

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

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G et al.

Circulation, 2019

31006259 (PubMed )
Supplement: cir-140-184-s001.pdf

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

HSC70 is a chaperone for wild-type and mutant cardiac myosin binding protein C.

Glazier AA et al.

Jci Insight, 2018

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem HSh et al.

Journal of Cardiovascular Translational Research, 2013

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 0

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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."