Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D245N
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LDLR

NM_000527.5:p.D245N

Associated Papers

LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.

Bogsrud MP et al.

European Heart Journal, 2025

41127896 (PubMed )
Supplement: ehaf815_supplementary_data.pdf

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.

Bourbon M et al.

Current Opinion in Lipidology, 2017

Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Dedoussis GV et al.

Human Mutation, 2004

Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

Maruyama T et al.

Journal of Atherosclerosis and Thrombosis, 2004

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Yu W et al.

Atherosclerosis, 2002

CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia.

Slimane MN et al.

Journal of Medical Genetics, 2002

Apolipoproteins and atherosclerosis. Apolipoprotein E and apolipoprotein(a) as candidate genes of premature development of atherosclerosis.

Horejsí B et al.

Physiological Research, 2000

[Frequency of occurrence of apolipoprotein E isoforms in patients with various types of hyperlipoproteinemias].

Vrablík M et al.

Casopis Lekaru Ceskych, 1999

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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."