Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_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." NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_assertion evidence source_evidence_literature NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_assertion SIO_000772 18728071 NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_assertion wasDerivedFrom befree-2016 NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_assertion wasGeneratedBy ECO_0000203 NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.
- befree-2016 importedOn "2016-02-19" NP689736.RAT0-z5E_JO8PhH8p8TREZ4B6zhUOSfbFjIPH_Zxd16Wg130_provenance.