Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_assertion description "[We confirm an overlap in the NPHS1/NPHS2 mutation spectrum with the characterization of a unique di-genic inheritance of NPHS1 and NPHS2 mutations, which results in a 'tri-allelic' hit and appears to modify the phenotype from CNF to one of congenital focal segmental glomerulosclerosis (FSGS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_assertion evidence source_evidence_literature NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_assertion SIO_000772 11854170 NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_assertion wasDerivedFrom befree-2016 NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_assertion wasGeneratedBy ECO_0000203 NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.
- befree-2016 importedOn "2016-02-19" NP345685.RAaVLT5aj5vHz7oVaQxjowH9WdvJBcoTpDwNre-_nisL0130_provenance.