Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V731_A735insFs
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LDLR

NM_000527.5:p.V731_A735insFs

Associated Papers

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

van der Graaf A et al.

Circulation, 2011

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