Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.Q330*
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EYA4

NM_004100.5:p.Q330*

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

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

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García G et al.

Genes, 2020

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

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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."