Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E763D
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LDLR

NM_000527.5:p.E763D

Associated Papers

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Rimbert A et al.

Frontiers in Genetics, 2021

35047021 (PubMed )
Supplement: DataSheet1.PDF

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

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

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

Novel low density lipoprotein receptor variant linked to early onset acute myocardial infarction in a patient with familial hypercholesterolaemia.

Bangash FA et al.

Jrsm Open, 2014

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ et al.

Atherosclerosis, 2012

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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."