Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L466_V467delFs
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EYA1

NM_172060.4:p.L466_V467delFs

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

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."