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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G. G. W., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T.,Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-019-0685-9
Date:
November, 2019
File:
PDF, 1.16 MB
english, 2019