Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C261Y
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LDLR

NM_000527.5:p.C261Y

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

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

35912641 (PubMed )
Supplement: MGG3-10-e2016-s001.docx

Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.

Benedek P et al.

Journal of Internal Medicine, 2021

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