Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.R146H
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ROBO3

NM_022370.4:p.R146H

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

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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."