Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D569G
Back to variants list

LDLR

NM_000527.5:p.D569G

Associated Papers

Impact of the clinical diagnostic strata of familial hypercholesterolemia on risk stratification among patients with hypercholesterolemia.

Tada H et al.

Atherosclerosis, 2025

Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 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

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in

Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Matsunaga K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.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."