Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.R41W
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LRP5

NM_002335.4:p.R41W

Associated Papers

Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy.

Wang K et al.

Molecular Vision, 2021

Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.

Li JK et al.

Investigative Ophthalmology & Visual Science, 2018

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

Kondo H et al.

Ophthalmology Science, 0

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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."