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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgAbrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
Download from doi.orgMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadBiallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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