Article
When genetic burden reaches threshold.
European heart journal - 14 Oct 2020
Walsh Roddy, Tadros Rafik, Bezzina Connie R
Abstract excerpt
Rare cardiac genetic diseases have generally been considered to be broadly Mendelian in nature, with clinical genetic testing for these conditions predicated on the detection of a primary causative rare pathogenic variant that will enable cascade genetic screening in families. However, substantial variability in penetrance and disease severity among carriers of pathogenic variants, as well as the inability to...
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