Associated Papers
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Sabatel-Pérez F et al.
Journal of Clinical Medicine, 2021
33668494 (PubMed )
Supplement: jcm-10-00749-s001.pdf
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Rodríguez-Jiménez C et al.
Human Mutation, 2019
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