Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.E427_E428Splc
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EYA4

NM_004100.5:p.E427_E428Splc

Associated Papers

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.

Xue J et al.

Bmc Medical Genomics, 2024

Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Zhang W et al.

Bmc Medical Genomics, 2022

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

Morín M et al.

Scientific Reports, 2020

Prevalence and clinical features of hearing loss caused by EYA4 variants.

Shinagawa J et al.

Scientific Reports, 2020

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

Varga L et al.

Bmc Medical Genetics, 2019

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.

Huang A et al.

Journal of Translational Medicine, 2015

Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.

Kim YR et al.

Plos One, 2015

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.

Shearer AE et al.

Bmc Genomics, 2012

23148716 (PubMed )
Supplement: 1471-2164-13-618-S1.xlsx › formatted

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Hildebrand MS et al.

American Journal of Medical Genetics. Part A, 2007

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

van Beelen E et al.

Ear and Hearing, 0

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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."