Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S648delFs
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LDLR

NM_000527.5:p.S648delFs

Associated Papers

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf

Evaluation of high-resolution melting analysis for screening the LDL receptor gene.

Laurie AD et al.

Clinical Biochemistry, 2009

Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

Laurie AD et al.

Atherosclerosis. Supplements, 2004

Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.

Bunn CF et al.

Human Mutation, 2002

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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."