Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.H740H
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LDLR

NM_000527.5:p.H740H

Associated Papers

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

Saarinen A et al.

Bone, 2007

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.

Ferrari SL et al.

Current Opinion in Lipidology, 2005

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

Mizuguchi T et al.

Journal of Human Genetics, 2004

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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."