Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R574S
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LDLR

NM_000527.5:p.R574S

Associated Papers

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Paththinige CS et al.

Lipids in Health and Disease, 2018

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

Long-term atorvastatin-ezetimibe-probucol triple therapy for homozygous familial hypercholesterolaemia from early childhood.

Lin M et al.

Cardiology in the Young, 2016

Mutation detection in Chinese patients with familial hypercholesterolemia.

Du R et al.

Springerplus, 2016

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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."