Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.I498insFs
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EYA1

NM_000503.6:p.I498insFs

Associated Papers

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Graziani L et al.

Genes, 2025

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.

He J et al.

Frontiers in Genetics, 2023

EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families.

Chen P et al.

International Journal of Pediatric Otorhinolaryngology, 2019

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