Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_assertion description "[The 4529insA mutation appeared to be homozygous in this patient and was not found in 20 unrelated controls or 18 other GSD-III patients (14 GSD-IIIa and 4 GSD-IIIb).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_assertion evidence source_evidence_literature NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_assertion SIO_000772 8990006 NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_assertion wasDerivedFrom befree-2016 NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_assertion wasGeneratedBy ECO_0000203 NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1365486.RAPA1FYtWgCBCmHQ-EVOlqq0AKpgygMm9OjOwc63hr_x0130_provenance.