Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_assertion description "[Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_assertion evidence source_evidence_curated NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_assertion SIO_000772 22267198 NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_assertion wasDerivedFrom ctd_human-20130708 NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_assertion wasGeneratedBy ECO_0000218 NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP12993.RA787yo_yxLiyUy8jKPEvs3BpV12oBiNURsASQKwrWG3M130_provenance.