Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R406insFs
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LDLR

NM_000527.5:p.R406insFs

Associated Papers

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.

Konečná K et al.

Lipids in Health and Disease, 2024

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Usifo E et al.

Annals of Human Genetics, 2012

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Goldmann R et al.

Bmc Medical Genetics, 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."