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- Bfab5984bc2a54fc5e272c7fdfb089543 NCIT_P378 "NCI" @default.
- Bfab5984bc2a54fc5e272c7fdfb089543 NCIT_P381 "OMIM" @default.
- Bfab5984bc2a54fc5e272c7fdfb089543 type Axiom @default.
- Bfab5984bc2a54fc5e272c7fdfb089543 annotatedProperty IAO_0000115 @default.
- Bfab5984bc2a54fc5e272c7fdfb089543 annotatedSource NCIT_C75305 @default.
- Bfab5984bc2a54fc5e272c7fdfb089543 annotatedTarget "Human CDKL5 wild-type allele is located in the vicinity of Xp22 and is approximately 228 kb in length. This allele, which encodes cyclin-dependent kinase-like 5 protein, is involved in the mediation of protein phosphorylation. Translocations and mutations involving the gene are associated with X-linked infantile spasm syndrome 2. Rett syndrome also is associated with defects in the gene." @default.