Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.A1885_E1886Splc
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MYH7

NM_000257.4:p.A1885_E1886Splc

Associated Papers

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

Santos S et al.

Bmc Medical Genetics, 2012

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Roncarati R et al.

Journal of Cellular Physiology, 2011

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
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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."