Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D362delFs
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LDLR

NM_000527.5:p.D362delFs

Associated Papers

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M et al.

Metabolism: Clinical and Experimental, 2016

The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.

Ten Kate GJ et al.

Atherosclerosis, 2013

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW et al.

Human Genetics, 2001

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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."