Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.E490insFs
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EYA4

NM_004100.5:p.E490insFs

Associated Papers

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

Varga L et al.

Bmc Medical Genetics, 2019

Identification of a novel missense eya4 mutation causing autosomal dominant non‑syndromic hearing loss in a chinese family.

Xiao SY et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2019

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Sun Y et al.

Journal of Human Genetics, 2015

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

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.

Liu F et al.

Plos One, 2015

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

Makishima T et al.

American Journal of Medical Genetics. Part A, 2007

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

Schönberger J et al.

Nature Genetics, 2005

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Wayne S et al.

Human Molecular Genetics, 2001

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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