Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C352*
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LDLR

NM_000527.5:p.C352*

Associated Papers

Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.

Kholaif N 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

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

Matsunaga K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Chetruengchai W et al.

Journal of Human Genetics, 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

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.

Alsultan A et al.

Genetic Testing and Molecular Biomarkers, 2018

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L et al.

Human Mutation, 2002

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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."