Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Maheshvara, a Conserved RNA Helicase, Regulates Notch Signaling in Drosophila melanogaster.
Maurya B et al.
Advances in Experimental Medicine and Biology, 2020
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V et al.
Human Mutation, 2018
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