Associated Papers
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
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Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in
Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.
Oosterveer DM et al.
European Journal of Human Genetics : Ejhg, 2013
The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
Ten Kate GJ et al.
Atherosclerosis, 2013
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010
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