Article

LDLR Variant Classification for Improved Cardiovascular Risk Prediction in Familial Hypercholesterolemia

2023-12-29

Abstract excerpt

<h4>Background</h4> Familial Hypercholesterolemia (FH) is a genetic disorder marked by high LDL cholesterol and an increased premature coronary artery disease (CAD) risk. Current dichotomous classification of LDL receptor gene ( LDLR ) variants may inadequately capture patient variability in LDL cholesterol levels and CAD risk. This study assessed a novel approach for assessing LDLR variant severity using variant-...

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Literature Corpus work: 59caf65b-bbe6-5ef9-9e84-00aa2fcc4d1e
DOI: 10.1101/2023.12.28.23300621

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