Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
Den Hoed, J., Hashimoto, H., Khan, M., Semmekrot, F., Bosanko, K., Abe-Hatano, C., Nakagawa, E., Venselaar, H., Quercia, N., Chad, L., Kurosaka, H., Rondeau, S., Fisher, S. E., Yamamoto, S., & Zarate, Y. A.
(in press). Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes.
Journal of Medical Genetics.
Publication type
Journal article
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