Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L642insFs
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LDLR

NM_000527.5:p.L642insFs

Associated Papers

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
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