Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_assertion description "[Molecular investigation of UMP synthase deficiency in a Japanese orotic aciduria patient revealed mutations R96G (A-to-G transition; nt 286) and G429R (G-to-C transversion; nt 1285) in one allele and V109G (T-to-G transversion; nt 326) in the other allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_assertion evidence source_evidence_curated NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_assertion SIO_000772 9042911 NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_assertion wasDerivedFrom uniprot-20130724 NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_assertion wasGeneratedBy ECO_0000218 NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6923.RAHUDfbmVWIi-c00zAF_gut-4GWD0C1ekO_MNpFFpusyY130_provenance.