Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_assertion description "[Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_assertion evidence source_evidence_literature NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_assertion SIO_000772 18728071 NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_assertion wasDerivedFrom befree-20140225 NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_assertion wasGeneratedBy ECO_0000203 NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP884365.RAqH0VbvGBzV-1q7-DDX_DEuTyXIAyIkmSJzcN-eIY_J8130_provenance.