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Page 1
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: gabriel mk. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. Tanaka AJ, et al. Among authors: gabriel mk. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002097. doi: 10.1101/mcs.a002097. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 29162653 Free PMC article.