Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G663fs
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LDLR

NM_000527.5:p.G663fs

Associated Papers

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Rieck L et al.

Clinical Genetics, 2020

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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."