Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.Q921L
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MYBPC3

NM_000256.3:p.Q921L

Associated Papers

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_S1.xlsx › Sheet1

Screening for Fabry disease in patients with left ventricular noncompaction.

Azevedo O et al.

Revista Portuguesa De Cardiologia, 2019

Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

Brito D et al.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2012

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.

Brito D et al.

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2008

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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."