Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S99insFs
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LDLR

NM_000527.5:p.S99insFs

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

Konečná K et al.

Lipids in Health and Disease, 2024

Genetics of Familial Hypercholesterolemia: New Insights.

Vrablik M et al.

Frontiers in Genetics, 2020

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP et al.

Bone, 2018

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Goldmann R et al.

Bmc Medical Genetics, 2010

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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."