Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q1044*
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MYBPC3

NM_000256.3:p.Q1044*

Associated Papers

Viral myocarditis in combination with genetic cardiomyopathy as a cause of sudden death. An autopsy series.

Callon D et al.

Bmc Cardiovascular Disorders, 2024

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

Gómez J et al.

Circulation. Cardiovascular Genetics, 2017

28356264 (PubMed )
Supplement: circgenetics_circcvg-2016-001584_supp1.pdf

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

Curila K et al.

Acta Cardiologica, 2012

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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."