Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.G456*
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ROBO3

NM_022370.4:p.G456*

Associated Papers

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

Harahsheh EY et al.

Neurogenetics, 2025

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

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

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

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."