Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L575P
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LDLR

NM_000527.5:p.L575P

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

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX et al.

Journal of Translational Medicine, 2018

30526649 (PubMed )
Supplement: 12967_2018_1737_MOESM1_ESM.pdf
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