Publication: De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome
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Gordon, C. T.
Xue, S.
Yigit, G.
Filali, H.
Chen, K.
Rosin, N.
Yoshiura, K.
Oufadem, M.
Beck, T.
Dion, C.
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Springer Nature
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European Journal of Human Genetics
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