Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.R587*
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EYA4

NM_004100.5:p.R587*

Associated Papers

Genetic analysis of patients with low-frequency non-syndromic hearing loss.

Yu S et al.

Molecular Genetics and Genomics : Mgg, 2024

Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.

Jin Y et al.

Biomedicines, 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

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Usami SI et al.

Human Genetics, 2022

34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Buonfiglio PI et al.

Scientific Reports, 2022

Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss.

Ishino T et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 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

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

Xia W et al.

Frontiers of Medicine, 2016

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

Choi HS et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2016

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf

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

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

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

Zhang Y et al.

Journal of the Association for Research in Otolaryngology : Jaro, 2004

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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."