Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion description "[A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion evidence source_evidence_curated NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion SIO_000772 11748304 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion wasDerivedFrom ctd_human-20130708 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_assertion wasGeneratedBy ECO_0000218 NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27565.RAq9Cf7EyIv1nhZ-uaeYALKMRIn08p0BpjSj8T-ocrlFY130_provenance.