Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G140S
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EYA1

NM_000503.6:p.G140S

Associated Papers

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Li G et al.

Intractable & Rare Diseases Research, 2018

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A et al.

International Journal of Pediatric Otorhinolaryngology, 2014

Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Kim HR et al.

Molecular Biology Reports, 2014

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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."