Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_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." NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_assertion evidence source_evidence_literature NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_assertion SIO_000772 24058414 NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_assertion wasDerivedFrom befree-20150227 NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_assertion wasGeneratedBy ECO_0000203 NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724429.RAmHUcS4n883t5uyaZ_2lr2zu48Nl5yHg3BDsYxj4KOYs130_provenance.