Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion description "[Our findings in the largest reported cohort to date significantly extend the range of reported manifestations associated with PIGV mutations and demonstrate that the severe end of the clinical spectrum presents as a multiple congenital malformation syndrome with a high frequency of Hirschsprung disease, vesicoureteral, and renal anomalies as well as anorectal malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion evidence source_evidence_literature NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion SIO_000772 24129430 NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion wasDerivedFrom befree-2016 NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_assertion wasGeneratedBy ECO_0000203 NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1119630.RAA0ShMM4utXTxwhckrQWpIbojoXaO71v8PuliZK7PfbU130_provenance.