Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_assertion description "[Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_assertion evidence source_evidence_curated NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_assertion SIO_000772 8954059 NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_assertion wasDerivedFrom uniprot-2016 NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_assertion wasGeneratedBy ECO_0000218 NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9239.RAbp0wBO_mMmN4ydjbQRchHPzVlWRdmPVQAtCF7EVbg7I130_provenance.