Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_assertion wasGeneratedBy ECO_0000218 NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_assertion wasDerivedFrom uniprot-2016 NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_assertion SIO_000772 10874306 NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_assertion evidence source_evidence_curated NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.
- NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_assertion description "[Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP886.RACJ-ixvWPx3XgJ8gwpVk8FCae8mOsELkXJiFcjccVk9U130_provenance.