Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q1012*
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MYBPC3

NM_000256.3:p.Q1012*

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

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

Glavaški M et al.

Medicina (kaunas, Lithuania), 2023

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Lenarduzzi S et al.

Molecular Genetics & Genomic Medicine, 2023

Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors.

Rudaka I et al.

Journal of Cardiovascular Development and Disease, 2023

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.

Yu MHC et al.

Journal of Human Genetics, 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

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

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

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Roncarati R et al.

Journal of Cellular Physiology, 2011

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

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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."