De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Chen Y., Dawes R., Kim HC., Stenton S., Walker S., Ljungdahl A., Lord J., Ganesh VS., Ma J., Martin-Geary A., Lemire G., D'Souza EN., Dong S., Ellingford J., Rubenstein J., Markenscoff-Papadimitriou E., Fica S., Baralle D., Depienne C., MacArthur D., Howson J., Sanders S., O'Donnell-Luria A., Whiffin N.

Type

Conference paper

Publication Date

2024

Volume

32

Pages

854 - 854

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