Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion> ?p ?o ?g. }
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- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion type Assertion NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_head.
- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion description "[Mutations in the binding site of the feedback inhibitor CMP-sialic acid of the GNE leads to sialuria, a disease in which patients produce sialic acid in gram scale.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_provenance.
- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion evidence source_evidence_literature NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_provenance.
- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion SIO_000772 17706199 NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_provenance.
- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion wasDerivedFrom befree-20140225 NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_provenance.
- NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_assertion wasGeneratedBy ECO_0000203 NP629960.RAdny9LBMtnhqyt3Qum_GDMs85gchy391B4U3c-p1c-0w130_provenance.