Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E101delFs
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LDLR

NM_000527.5:p.E101delFs

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

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

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

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

Whittall RA et al.

Annals of Clinical Biochemistry, 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."