Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R845S
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MYBPC3

NM_000256.3:p.R845S

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.

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Thompson AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S2.xlsx › Sheet1

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

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
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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."