Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R273C
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MYBPC3

NM_000256.3:p.R273C

Associated Papers

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Sarquella-Brugada G et al.

Frontiers in Pediatrics, 2021

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

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Chanavat V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Santos S et al.

Bmc Medical Genetics, 2012

Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.

Santos S 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, 2011

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

Girolami F et al.

Journal of the American College of Cardiology, 2010

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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."