Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.P478L
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ROBO3

NM_022370.4:p.P478L

Associated Papers

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

Harahsheh EY et al.

Neurogenetics, 2025

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

Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment.

Jørstad ØK et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2018

Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.

Ungaro C et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2018

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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."