Recurrent heterozygous PAX6 missense variants cause severe...

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Genetics in Medicine 2019 / 11

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.,
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Journal:
Genetics in Medicine
DOI:
10.1038/s41436-019-0685-9
Date:
November, 2019
File:
PDF, 1.16 MB
2019
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