Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_assertion description "[In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_assertion evidence source_evidence_curated NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_assertion SIO_000772 19321504 NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_assertion wasDerivedFrom ctd_human-20130708 NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_assertion wasGeneratedBy ECO_0000218 NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27525.RATfnE4tOw-424dfHCXEP_bF4PNS6-qvQ8X4wa9st1CVQ130_provenance.