Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion wasGeneratedBy ECO_0000218 NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion wasDerivedFrom uniprot-20150221 NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion SIO_000772 11733556 NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion evidence source_evidence_curated NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.
- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion description "[A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_provenance.