Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y188F
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LDLR

NM_000527.5:p.Y188F

Associated Papers

The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.

Liu Y et al.

Lipids in Health and Disease, 2024

Evidence that His349 acts as a pH-inducible switch to accelerate receptor-mediated iron release from the C-lobe of human transferrin.

Steere AN et al.

Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 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."