Developmental Brain Disorder Gene Database
- Unique Cases:
- ID, ASD, EP
- Last Updated:
- September 1, 2022
- Gene Function
- (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- SEB, KIAA0437
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy
|Leone MP et. al., The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate., Ital J Pediatr, 2020|
|Wang T et. al., Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders., Nat Commun, 2020|
|Yang L et. al., Clinical and genetic spectrum of a large cohort of children with epilepsy in China., Genet Med, 2019|
|Hu H et. al., Genetics of intellectual disability in consanguineous families., Mol Psychiatry, 2019|
|Balciuniene J et. al., Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy., JAMA Netw Open, 2019|
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