Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1702A
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MYH7

NM_000257.4:p.A1702A

Associated Papers

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

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

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

The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.

Wendel B et al.

Journal of Cellular Biochemistry, 2000

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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."