Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_assertion description "[Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_assertion evidence source_evidence_literature NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_assertion SIO_000772 23161826 NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_assertion wasDerivedFrom befree-2016 NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_assertion wasGeneratedBy ECO_0000203 NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1029417.RA0y8croh-VkpjRaIWNhGRdPAz7U4tp58GBVg4dZ4G3NI130_provenance.