Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.T262T
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MYBPC3

NM_000256.3:p.T262T

Associated Papers

Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.

Boen HM et al.

Frontiers in Genetics, 2024

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.

Glotov AS et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

Gómez J et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Posch MG et al.

Plos One, 2011

22194935 (PubMed )
Supplement: pone.0028872.s001.pdf

Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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