Circulation
Screen in cells may help classify cholesterol gene variants
Combined evidence suggested 322 of 434 gene variants with uncertain, conflicting or missing classifications could qualify for reclassification, pending expert review.Combined evidence suggested 322 of 434 gene variants with uncertain, conflicting or missing classifications could qualify for reclassification, pending expert review.

Human cell studyLDL cholesterol
Who was studiedHCT116 cells
What changed322 of 434 uncertain LDLR variants met evidence thresholds for reclassification
The catchCellular LDL-C uptake was a stand-in readout for in vivo LDLR function















