Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_assertion description "[A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_assertion evidence source_evidence_curated NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_assertion SIO_000772 21635362 NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_assertion wasDerivedFrom uniprot-2016 NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_assertion wasGeneratedBy ECO_0000218 NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6659.RATJNW5oT0KxV4-iu6eoMk8cziGFiMaKym4yTdHf2SM0s130_provenance.