Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.K1065fs
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MYBPC3

NM_000256.3:p.K1065fs

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy.

Foglieni C et al.

Biomedicines, 2022

36140281 (PubMed )
Supplement: biomedicines-10-02180-s001.zip › Supplemental_Material_Foglieni_C_Biomedicines_SI.pdf

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.

Preveden A et al.

Medicina (kaunas, Lithuania), 2022

35208637 (PubMed )
Supplement: medicina-58-00314-s001.zip › medicina-1570138-supplementary.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

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

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Marstrand P et al.

Circulation, 2020

32228044 (PubMed )
Supplement: cir-141-1371-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

Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.

Maurizi N et al.

Jama Cardiology, 2018

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Burns C et al.

Circulation. Cardiovascular Genetics, 2017

28790153 (PubMed )
Supplement: circgenetics_circcvg-2016-001666_supp1.pdf

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB et al.

Circulation. Cardiovascular Genetics, 2017

28615295 (PubMed )
Supplement: circgenetics_circcvg-2016-001671_supp1.pdf

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M et al.

International Journal of Molecular Medicine, 2016

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S et al.

International Journal of Molecular Sciences, 2016

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

Calore C et al.

Journal of Medical Genetics, 2015

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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."