Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G374_Y375insFs
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LDLR

NM_000527.5:p.G374_Y375insFs

Associated Papers

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

Di Taranto MD et al.

Clinical Genetics, 2021

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

From lipoprotein apheresis to proprotein convertase subtilisin/kexin type 9 inhibitors: Impact on low-density lipoprotein cholesterol and C-reactive protein levels in cardiovascular disease patients.

Zenti MG et al.

European Journal of Preventive Cardiology, 2018

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."