Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- befree-2016 importedOn "2016-02-19" NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_assertion wasGeneratedBy ECO_0000203 NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_assertion wasDerivedFrom befree-2016 NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_assertion SIO_000772 11285244 NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_assertion evidence source_evidence_literature NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.
- NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_assertion description "[Although severe facial anomalies are common in HPE, all of the patients with ZIC2 mutations had relatively normal faces, suggesting that ZIC2 mutations represent a large proportion of HPE cases without facial malformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313105.RAl81cF0NLL7qrpRIRtZyaNMB0KAZsc5a8EsdjJN65m0k130_provenance.