Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.Q156*
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EYA1

NM_000503.6:p.Q156*

Associated Papers

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

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction.

He J et al.

Frontiers in Genetics, 2023

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

Chen A et al.

Clinical Genetics, 2021

EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families.

Chen P et al.

International Journal of Pediatric Otorhinolaryngology, 2019

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

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A et al.

International Journal of Pediatric Otorhinolaryngology, 2014

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

Wang SH et al.

The Laryngoscope, 2012

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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."