Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D569Splc
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LDLR

NM_000527.5:p.D569Splc

Associated Papers

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.

Yip MK et al.

Genes, 2023

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

Universal Screening for Familial Hypercholesterolemia in Children.

Klančar G et al.

Journal of the American College of Cardiology, 2015

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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."