Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.A1255D
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MYBPC3

NM_000256.3:p.A1255D

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc1.pdf

Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.

Jiang S et al.

Frontiers in Pediatrics, 2025

41341110 (PubMed )
Supplement: Datasheet1.xlsx › Supplementary_Table_S1

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Ribeiro M et al.

Human Cell, 2024

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

Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation.

Sun Y et al.

Stem Cell Research, 2022

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-s001.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."