Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.R352fs
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EYA4

NM_004100.5:p.R352fs

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

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

Morín M 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

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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."