Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion description "[A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion evidence source_evidence_literature NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion SIO_000772 25714420 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion wasDerivedFrom befree-2016 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_assertion wasGeneratedBy ECO_0000203 NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266244.RAs3HIuXQz7dIOzZT4-Lh2a2Y2Ebp5KniIZCwaKRSSfvc130_provenance.