Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K409delFs
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EYA1

NM_172060.4:p.K409delFs

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 recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Stockley TL et al.

American Journal of Medical Genetics. Part A, 2009

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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."