Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_assertion description "[Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_assertion evidence source_evidence_literature NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_assertion SIO_000772 24058414 NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_assertion wasDerivedFrom befree-2016 NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_assertion wasGeneratedBy ECO_0000203 NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.
- befree-2016 importedOn "2016-02-19" NP1112757.RAKC34pjJIzha3Bl8YpLjIK8mYNRHQyokQ6IttTzi3qps130_provenance.