Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_assertion description "[Examination of 12 MNGIE probands revealed homozygous or compound-heterozygous mutations in the gene specifying thymidine phosphorylase (TP), located on chromosome 22q13.32-qter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_assertion evidence source_evidence_curated NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_assertion SIO_000772 9924029 NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_assertion wasDerivedFrom uniprot-20130724 NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_assertion wasGeneratedBy ECO_0000218 NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6863.RAOsW054pgEmsKbkicsfeJUpDiyb6rW4HYQtsTYDbMHp0130_provenance.