Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E276Splc
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EYA1

NM_000503.6:p.E276Splc

Associated Papers

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Graziani L et al.

Genes, 2025

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.

Ge Y et al.

Frontiers in Medicine, 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

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.

Tang P et al.

Medicine, 2022

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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."