Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R9G
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LDLR

NM_000527.5:p.R9G

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5

Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.

Martinelli N et al.

Blood, 2010

Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

Tosi I et al.

Atherosclerosis, 2007

Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women.

Marchetti G et al.

Haematologica, 2006

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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."