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Paper Details

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
29
2020
ASH1L, CCR4, CNOT1, CNOT1 dysfunction, CNOT1 variants, DYRK1A, Drosophila, MED13, NOT, Neurodevelopmental Delay, RNA, SHANK3, autism, autism-spectrum genes, human, human wild-type CNOT1, hypotonia, intellectual disability, mRNA, motor delay, mutant and wild-type alleles, neurodevelopmental delay, patient, seizures, speech delay, variant
Author NameAffiliation
Frances Lucy RaymondUniversity of Cambridge
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Ian D KrantzThe Children's Hospital of Philadelphia
Megan T Cho
Maximilian MuenkeThe Genetics Institute, Technion - Israel Institute of Technology
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