Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.R703P
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ROBO3

NM_022370.4:p.R703P

Associated Papers

20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review.

Harahsheh EY et al.

Neurogenetics, 2025

A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.

Zhang Z et al.

Spine, 2023

Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis.

Huang L et al.

Frontiers in Pediatrics, 2022

Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.

Xiu Y et al.

Journal of Molecular Neuroscience : Mn, 2021

Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

Pinero-Pinto E et al.

International Journal of Environmental Research and Public Health, 2020

Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases.

Bouchoucha S et al.

Frontiers in Pediatrics, 2020

Crystal structure of the extracellular juxtamembrane region of Robo1.

Barak R et al.

Journal of Structural Biology, 2014

Early-onset or rapidly progressive scoliosis in children: check the eyes!

Kurian M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.

Abu-Amero KK et al.

Ophthalmic Genetics, 2011

Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.

Amouri R et al.

Journal of Molecular Neuroscience : Mn, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.

Abu-Amero KK et al.

Journal of the Neurological Sciences, 2009

Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis.

Haller S et al.

Neuroradiology, 2008

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Jen JC et al.

Science (new York, N.y.), 2004

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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."