A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro, Vincenzo 1,+; Efthymiou, Stephanie 1,+; Manole, Andreea 1; Maurya, Bhawana 2; Wiethoff, Sarah 1; Ashokkumar, Balasubramaniem 1,3; Cutrupi, Maria Concetta 4; Dipasquale, Valeria 4; Manti, Sara 4; Botia, Juan A. 1,5; Ryten, Mina 1; Vandrovcova, Jana 1; Bello, Oscar D. 6; Bettencourt, Conceicao 1,6; Mankad, Kshitij 7; Mukherjee, Ashim 2; Mutsuddi, Mousumi *,2; Houlden, Henry *,1
[Report]
Human Mutation.
39(2):187-192, February 2018.
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