Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_assertion description "[We report on novel mutations of the IDUA gene in one patient with the Scheie syndrome and in three patients with the Hurler/Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_assertion evidence source_evidence_curated NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_assertion SIO_000772 7550232 NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_assertion wasDerivedFrom uniprot-2016 NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_assertion wasGeneratedBy ECO_0000218 NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8330.RA36lroSjW-qoLBhaZO_FJtokNo6-_qStt1yrdwSJquEE130_provenance.