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Paper Details

Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.
medRxiv
1
2023
-derived T-cells, 4E-BP1, CCNE1, CUL3, CUL3 protein, Cullin-3, Dysmorphic facial features, EIF4EBP1, LoF variants, NDDs, RING E3 ligase, autistic features, cullin, cyclin E1, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, patient, patient-derived T-cells, patient-derived cells, patients, rare variants, syndromic NDD, syndromic neurodevelopmental disorder, ubiquitin, ubiquitin ligase

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Release 1.2