Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.E256Splc
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ROBO3

NM_022370.4:p.E256Splc

Associated Papers

Compound Heterozygous ROBO3 Mutation in Two Siblings Presenting with Horizontal Gaze Palsy without Scoliosis: Case-Based Review.

Deniz A et al.

Journal of Pediatric Genetics, 2024

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM et al.

European Journal of Human Genetics : Ejhg, 2021

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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."