Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion> ?p ?o ?g. }
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- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion type Assertion NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_head.
- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_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." NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_provenance.
- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion evidence source_evidence_literature NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_provenance.
- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion SIO_000772 21984751 NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_provenance.
- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion wasDerivedFrom befree-2016 NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_provenance.
- NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_assertion wasGeneratedBy ECO_0000203 NP929674.RAXB-V8tdmjNtZzSa6v71y4YbbabuZ_rnBnL9pPONATQY130_provenance.