Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.K612*
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EYA4

NM_004100.5:p.K612*

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

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

Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.

Hu S et al.

Neural Plasticity, 2018

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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."