Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.V550A
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EYA1

NM_000503.6:p.V550A

Associated Papers

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

Chang EH et al.

Human Mutation, 2004

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

Hampson K et al.

Journal of Medical Genetics, 2000

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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."