Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R492insFs
Back to variants list

EYA1

NM_000503.6:p.R492insFs

Associated Papers

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

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Li G et al.

Intractable & Rare Diseases Research, 2018

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Kim HR et al.

Molecular Biology Reports, 2014

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

Kim SH et al.

International Journal of Pediatric Otorhinolaryngology, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."