Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E615_D616Splc
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LDLR

NM_000527.5:p.E615_D616Splc

Associated Papers

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Rutkowska L et al.

Genes, 2022

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."