Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_assertion description "[263.4�kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_assertion evidence source_evidence_literature NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_assertion SIO_000772 23528641 NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_assertion wasDerivedFrom befree-20150227 NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_assertion wasGeneratedBy ECO_0000203 NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724563.RA2VZANEZ_T4ldcwTaKgJjv3kIry16a1EXeFPLZB85YWA130_provenance.