Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G533delFs
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EYA1

NM_000503.6:p.G533delFs

Associated Papers

A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.

Chen A et al.

Clinical and Experimental Otorhinolaryngology, 2025

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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."