Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D472_I473insFs
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LDLR

NM_000527.5:p.D472_I473insFs

Associated Papers

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

Di Taranto MD et al.

Clinical Genetics, 2021

The study of familial hypercholesterolemia in Italy: A narrative review.

Bertolini S et al.

Atherosclerosis. Supplements, 2017

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S et al.

Atherosclerosis, 2013

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

LDL-receptor mutations in Europe.

Dedoussis GV et al.

Human Mutation, 2004

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L et al.

Human Mutation, 2002

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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."