Varaico: Literature-Extracted Genetic Variants

Gene:CBY1
Variant:p.R123W
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CBY1

NM_015373.4:p.R123W

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

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 › SPK13_het
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