Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C222_D227ins2
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LDLR

NM_000527.5:p.C222_D227ins2

Associated Papers

LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.

Bogsrud MP et al.

European Heart Journal, 2025

41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf

Familial Hypercholesterolemia: Still an Enigma.

Arora S et al.

Jacc. Case Reports, 2025

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Souter V et al.

Circulation. Genomic and Precision Medicine, 2024

38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."