Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion> ?p ?o ?g. }
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- NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_assertion type Assertion NP417.RASIGct7HhhrZCGP13iC91MpGyhWR5oP16EHcJb8L_aBk130_head.
- 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.