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

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

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology