Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q474fs
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LDLR

NM_000527.5:p.Q474fs

Associated Papers

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

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

LDL-receptor mutations in Europe.

Dedoussis GV et al.

Human Mutation, 2004

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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."