Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-2.xlsx › SuppTable2
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
Jiang L et al.
Atherosclerosis, 2017
RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.
Sabarinathan R et al.
Human Mutation, 2013
23315997 (PubMed )
Supplement: humu0034-0546-SD1.pdf
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
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