Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
41190428 (PubMed )
Supplement: hcg-18-e005206-s002.xlsx › LDLR
Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Yuan Y et al.
Frontiers in Genetics, 2025
40534843 (PubMed )
Supplement: Table2.xlsx › Sheet2
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.
Huang YX et al.
Frontiers in Genetics, 2021
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
Andreotti G et al.
European Journal of Epidemiology, 2009
Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.
Andreotti G et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008
Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
Sozen M et al.
Atherosclerosis. Supplements, 2004
Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.
Srivastava K et al.
Mutation Research, 0
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