Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C34R
Back to variants list

LDLR

NM_000527.5:p.C34R

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

New cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants.

de Paiva Silvino JP et al.

Journal of Diabetes and Metabolic Disorders, 2025

Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.

Lukac SS et al.

Diagnostics (basel, Switzerland), 2025

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Nature Genetics, 2024

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Jannes CE et al.

Arquivos Brasileiros De Cardiologia, 2022

Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.

de Paiva Silvino JP et al.

Molecular Biology Reports, 2020

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."