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The Human Phenotype Ontology in 2024: phenotypes around the world
Download from doi.orgThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders
UploadHeterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Download from onlinelibrary.wiley.comDe Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus
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