Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K365K
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MYH7

NM_000257.4:p.K365K

Associated Papers

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Fridman H et al.

Molecular Genetics and Genomics : Mgg, 2021

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Montag J et al.

Journal of Muscle Research and Cell Motility, 2017

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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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."