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
Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
Chen K et al.
Metabolism: Clinical and Experimental, 2007
[A compound heterozygote family of familial hypercholesterolemia due to new mutations].
Chen K et al.
Zhonghua Nei Ke Za Zhi, 2006
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