" /> EYA1 wt Allele - CISMeF





Preferred Label : EYA1 wt Allele;

NCIt synonyms : MGC141875; BOR; OTFCS; BOP; EYA wt Allele; BOS1; Eyes Absent 1 Gene; Eyes Absent (Drosophila) Homolog 1 Gene; Eyes Absent, Drosophila, Homolog of, 1; Eyes Absent Homolog 1 (Drosophila) Gene; EYA Transcriptional Coactivator and Phosphatase 1 wt Allele; OFC1;

NCIt definition : Human EYA1 wild-type allele is located in the vicinity of 8q13.3 and is approximately 395 kb in length. This allele, which encodes protein phosphatase EYA1 protein, may be involved in the development of the eyes, ears, branchial arches and kidney. Mutations of this gene are associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, congenital cataracts and ocular anterior segment anomalies.;

GenBank Accession Number : AJ000098;

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19/08/2025


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