Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_assertion description "[After screening for mutations in PAX6, CYP1B1, and FOXC1, a novel FOXC1 W152G mutation was identified in a newborn boy with aniridia and congenital glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_assertion evidence source_evidence_literature NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_assertion SIO_000772 19279310 NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_assertion wasDerivedFrom befree-20140225 NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_assertion wasGeneratedBy ECO_0000203 NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP317585.RA2hG39GoJPI8QKUpYt1zVNwsVaDMkxQIdGAq9ZFtUA3I130_provenance.