Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L583P
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EYA1

NM_000503.6:p.L583P

Associated Papers

From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency.

Yang M et al.

Bmc Nephrology, 2025

Prenatal Phenotypic Analysis of Branchio-Oto-Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review.

Tian Y et al.

Prenatal Diagnosis, 2024

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
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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."