Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_assertion wasGeneratedBy ECO_0000203 NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_assertion wasDerivedFrom befree-20140225 NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_assertion SIO_000772 18688873 NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_assertion evidence source_evidence_literature NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_assertion description "[The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP819489.RAMId600sfccDYjHmAdlvvQupVRDm8ROmJ47wR9qt6hAM130_provenance.