Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W4fs
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LDLR

NM_000527.5:p.W4fs

Associated Papers

Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.

Raal FJ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

38545781 (PubMed )
Supplement: atv-44-1156-s001.pdf

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

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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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."