Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.V648I
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LRP5

NM_002335.4:p.V648I

Associated Papers

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.

Chen C et al.

American Journal of Ophthalmology, 2020

Next-Generation Sequencing in the Familial Exudative Vitreoretinopathy-Associated Rhegmatogenous Retinal Detachment.

Chen C et al.

Investigative Ophthalmology & Visual Science, 2019

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

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.

Tang M et al.

Investigative Ophthalmology & Visual Science, 2017

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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."