Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion description "[A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion evidence source_evidence_literature NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion SIO_000772 8990006 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion wasDerivedFrom gad-20130706 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_assertion wasGeneratedBy ECO_0000203 NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.
- gad-20130706 importedOn "2013-07-06" NP48966.RA1BloyvaKp1_wl0_crpdDn4JqtZSQnxvneEeAgRLRdtE130_provenance.