Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion> ?p ?o ?g. }
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- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion type Assertion NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_head.
- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion description "[Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_provenance.
- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion evidence source_evidence_literature NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_provenance.
- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion SIO_000772 21984751 NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_provenance.
- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion wasDerivedFrom befree-20150227 NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_provenance.
- NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_assertion wasGeneratedBy ECO_0000203 NP372019.RAN1jWKLB8UUzE9F7sllf2KCLqMsCro1VOH2To4IIhKoE130_provenance.