Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.I434K
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EYA4

NM_004100.5:p.I434K

Associated Papers

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

Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness.

Chen P et al.

Frontiers in Genetics, 2021

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

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

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Xia W et al.

Frontiers of Medicine, 2016

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

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

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M et al.

International Journal of Molecular Medicine, 2014

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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."