Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_assertion description "[Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_assertion evidence source_evidence_curated NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_assertion SIO_000772 10763829 NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_assertion wasDerivedFrom ctd_human-20130708 NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_assertion wasGeneratedBy ECO_0000218 NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP26447.RAVH1p0Ft25mLkP9XcBDnzwKwet6lj3UdkszkF1Tnq2cw130_provenance.