Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.E644E
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LRP5

NM_002335.4:p.E644E

Associated Papers

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Fei P et al.

Molecular Vision, 2014

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children.

Saarinen A et al.

Bone, 2010

Body composition and bone mineral density in children with premature adrenarche and the association of LRP5 gene polymorphisms with bone mineral density.

Utriainen P et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children.

Lappalainen S et al.

Clinical Endocrinology, 2009

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

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

Crabbe P et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

Hartikka H et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

Van Wesenbeeck L et al.

American Journal of Human Genetics, 2003

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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."