Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S; Roessler E; El-Jaick KB; Snir M; Brown JL; Vélez JI; Bale S; Lacbawan F; Muenke M; Feldman B; Human Molecular Genetics, 2008, vol. 17, issue 24, p 3919, ISSN 14602083. ISBN 14602083.

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