Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E380_E381Splc
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EYA1

NM_000503.6:p.E380_E381Splc

Associated Papers

CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.

Yi H et al.

Molecular Therapy. Nucleic Acids, 2024

38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1

A Novel EYA1 Mutation Causing Alternative RNA Splicing in a Chinese Family With Branchio-Oto Syndrome: Implications for Molecular Diagnosis and Clinical Application.

Chen A et al.

Clinical and Experimental Otorhinolaryngology, 2023

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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."