Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.G494D
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LRP6

NM_002336.3:p.G494D

Associated Papers

Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.

Xiao H et al.

Journal of Ophthalmology, 2019

Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.

Shi Z et al.

Birth Defects Research, 2018

Rare LRP6 variants identified in spina bifida patients.

Lei Y et al.

Human Mutation, 2015

A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Maupin KA et al.

Bone Research, 2013

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Ai M et al.

American Journal of Human Genetics, 2005

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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."