Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion wasGeneratedBy ECO_0000218 NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion wasDerivedFrom uniprot-2016 NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion SIO_000772 10332035 NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion evidence source_evidence_curated NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.
- NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion description "[They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance.