Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion> ?p ?o ?g. }
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- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion type Assertion NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_head.
- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion description "[Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_provenance.
- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion evidence source_evidence_literature NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_provenance.
- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion SIO_000772 17478476 NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_provenance.
- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion wasDerivedFrom befree-2016 NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_provenance.
- NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_assertion wasGeneratedBy ECO_0000203 NP608103.RA4U1aFbEXJREXn20kJiVoRrT93Z2e3bDsMx9U0V2oQ8c130_provenance.