Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G533Splc
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EYA1

NM_000503.6:p.G533Splc

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

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

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
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