Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G48S
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LDLR

NM_000527.5:p.G48S

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-2.xlsx › SuppTable2

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura.

Mochi M et al.

Journal of the Neurological Sciences, 2003

A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis. Mutations in brief no. 145. Online.

Kottler M et al.

Human Mutation, 1998

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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."