Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D100N
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LDLR

NM_000527.5:p.D100N

Associated Papers

Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.

Yip MK et al.

Genes, 2023

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

Complex disease management of pregnant young patient with familial hypercholesterolaemia complicated by coronary artery disease and cerebrovascular disease.

Moss S et al.

Cardiovascular Revascularization Medicine : Including Molecular Interventions, 2018

Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.

Hsiung YC et al.

Atherosclerosis, 2018

Management of Familial Hypercholesterolemia in Hong Kong.

Hu M et al.

Journal of Atherosclerosis and Thrombosis, 2016

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Li H et al.

Gene, 2015

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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."