Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery
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DOI: 10.1371/journal.pgen.1010236
Abstract: Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable… read more here.
Keywords: left sided; disease; sequencing multiplex; multiplex families ... See more keywords