Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K225_D227ins1
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LDLR

NM_000527.5:p.K225_D227ins1

Associated Papers

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Doi T et al.

Journal of the American Heart Association, 2021

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Mehta R et al.

Journal of Lipid Research, 2016

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE et al.

Atherosclerosis, 2015

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA et al.

Annals of Clinical Biochemistry, 2010

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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."