Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.E1270fs
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LRP5

NM_002335.4:p.E1270fs

Associated Papers

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

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

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

Rickels MR et al.

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

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

Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton.

Koay MA et al.

Trends in Molecular Medicine, 2005

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Gong Y et al.

Cell, 2001

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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."