Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_assertion wasGeneratedBy ECO_0000218 NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_assertion wasDerivedFrom uniprot-2016 NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_assertion SIO_000772 7951228 NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_assertion evidence source_evidence_curated NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.
- NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_assertion description "[Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8631.RADigYcTIJ1eVw_IDVWlko2Wm6jwXtu1an7bAgNJ2piM0130_provenance.