Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, G G W Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise MeireAnthony T Moore, Michael Parker, Charlotte M Reiff, Jay Self, Edward S Tobias, Joke B G M Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A Marsh, David R FitzPatrick

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Biochemistry, Genetics and Molecular Biology