Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E243*
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EYA1

NM_172060.4:p.E243*

Associated Papers

A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.

Clarke JC et al.

Clinical Genetics, 2006

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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."