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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Engal E, Oja KT, Maroofian R, et al. Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. American journal of human genetics. 2023;110(12):2112-2119. doi:10.1016/j.ajhg.2023.10.013

Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Engal E, Oja KT, Maroofian R, et al. Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.19.23291425

Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Engal E, Oja KT, Maroofian R, et al. Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.19.23291425