Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect
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DOI: 10.1093/ehjci/ehaa946.3724
Abstract: Genome structural variants (SVs) have larger effect on human genome functions than single nucleotide variants (SNVs). Although short-read sequencing (SRS) is current major next generation sequencing method and has given us a great benefit to… read more here.
Keywords: myh6; long read; large deletion; deletion myh6 ... See more keywords
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta
Sign Up to like & getrecommendations! Published in 2018 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehy142
Abstract: Abstract Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study… read more here.
Keywords: coarctation aorta; myh6; missense mutation; coa ... See more keywords