Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_assertion description "[The two patients with posterior SBH harbored a missense (Arg241Pro) and a nonsense (R8X) mosaic mutation of LIS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_assertion evidence source_evidence_literature NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_assertion SIO_000772 14581661 NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_assertion wasDerivedFrom befree-20140225 NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_assertion wasGeneratedBy ECO_0000203 NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP824213.RAf5-lyfujPlL95K8ItHzvMMnzaV_S3zk_XPkRRsTRIsQ130_provenance.