Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.H114Y
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ROBO3

NM_022370.4:p.H114Y

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

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
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