Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E174K
Back to variants list

LDLR

NM_000527.5:p.E174K

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-1.xlsx › SuppTable1

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s022.xlsx › Sheet_1

Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Bioinformatics (oxford, England), 2024

38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf

Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.

Weile J et al.

Biorxiv : the Preprint Server for Biology, 2023

36865234 (PubMed )
Supplement: media-1.pdf

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM et al.

Circulation. Cardiovascular Genetics, 2016

27784735 (PubMed )
Supplement: 001545_supplemental_material.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."