Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K107del1
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LDLR

NM_000527.5:p.K107del1

Associated Papers

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

Binding of human apoA-I[K107del] variant to TG-rich particles: implications for mechanisms underlying hypertriglyceridemia.

Gorshkova IN et al.

Journal of Lipid Research, 2014

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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."