Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_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." NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_assertion evidence source_evidence_literature NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_assertion SIO_000772 21984751 NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_assertion wasDerivedFrom befree-20150227 NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_assertion wasGeneratedBy ECO_0000203 NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP372058.RAOTAaZdNyoCE1vFAV6L5te83mqP9l_1H8EmjWJGMxkfM130_provenance.