Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.S288*
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EYA4

NM_004100.5:p.S288*

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

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH et al.

Human Genetics, 2022

34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf

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

Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.

Mi Y et al.

Molecular Genetics & Genomic Medicine, 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

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

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Frykholm C et al.

Gene, 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

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Baek JI et al.

Orphanet Journal of Rare Diseases, 2012

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."