Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K548insFs
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EYA1

NM_000503.6:p.K548insFs

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

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."