Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D227del1
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LDLR

NM_000527.5:p.D227del1

Associated Papers

Noninvasive assessment of endothelial function and vascular parameters in patients with familial and nonfamilial hypercholesterolemia.

Lewandowski P et al.

Polskie Archiwum Medycyny Wewnetrznej, 2014

Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.

Mollaki V et al.

Annals of Human Genetics, 2013

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

Usifo E et al.

Annals of Human Genetics, 2012

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Chmara M et al.

Journal of Applied 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."