Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D266V
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MYBPC3

NM_000256.3:p.D266V

Associated Papers

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Kawana M et al.

Frontiers in Physiology, 2022

Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.

Alejandra Restrepo-Cordoba M et al.

Journal of Cardiovascular Translational Research, 2017

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE et al.

Clinical Genetics, 2014

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

Zou Y et al.

Molecular Biology Reports, 2013

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

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP et al.

Circulation. Cardiovascular Genetics, 2009

Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

Olivotto I et al.

Mayo Clinic Proceedings, 2008

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."