Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.E319K
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ROBO3

NM_022370.4:p.E319K

Associated Papers

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

Harahsheh EY et al.

Neurogenetics, 2025

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.

Yi S et al.

Molecular Genetics & Genomic Medicine, 2023

37330975 (PubMed )
Supplement: MGG3-11-e2215-s003.docx

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

Altered White Matter Organization in the TUBB3 E410K Syndrome.

Grant PE et al.

Cerebral Cortex (new York, N.y. : 1991), 2019

Imaging findings in congenital cranial dysinnervation disorders.

Ferreira RM et al.

Topics in Magnetic Resonance Imaging : Tmri, 2011

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

Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing.

Amoiridis G et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2006

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Chan WM et al.

Journal of Medical Genetics, 2006

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."