Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R972Q
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MYBPC3

NM_000256.3:p.R972Q

Associated Papers

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

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

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

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

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29875424 (PubMed )
Supplement: 41436_2018_46_MOESM1_ESM.xlsx › Table_S3
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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."