Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.I598V
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LDLR

NM_000527.5:p.I598V

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

Hypercholesterolemia induced by spontaneous oligogenic mutations in rhesus macaques (Macaca mulatta).

Takenaka A et al.

Journal of Medical Primatology, 2023

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