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Browse result for Clark-Baraitser syndrome
※ introduction An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36.
Reference
DiseaseOntology: Clark-Baraitser syndrome
Reference
DiseaseOntology: Clark-Baraitser syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD06787 | Q14669 | 9320 | TRIP12 | E3 ubiquitin-protein ligase TRIP12 | Homo sapiens |
