Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion> ?p ?o ?g. }
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- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion type Assertion NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_head.
- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion description "[Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem disorders characterized by defective glycosylation of glycoconjugates.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_provenance.
- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion evidence source_evidence_literature NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_provenance.
- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion SIO_000772 9140401 NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_provenance.
- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion wasDerivedFrom befree-2016 NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_provenance.
- NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_assertion wasGeneratedBy ECO_0000203 NP1372376.RACTccOrNvHkuq9WImutIr3dNrgTGQhnHEJjj54GOF6g0130_provenance.