Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.D495E
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ROBO3

NM_022370.4:p.D495E

Associated Papers

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

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
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