Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G529Splc
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LDLR

NM_000527.5:p.G529Splc

Associated Papers

Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.

Sabatel-Pérez F et al.

Journal of Clinical Medicine, 2021

33668494 (PubMed )
Supplement: jcm-10-00749-s001.pdf

Growth hormone induces low-density lipoprotein clearance but not bile acid synthesis in humans.

Lind S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2004

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Julies MG et al.

European Journal of Human Genetics : Ejhg, 2001

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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."