Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion> ?p ?o ?g. }
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- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion type Assertion NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_head.
- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_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." NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_provenance.
- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion evidence source_evidence_literature NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_provenance.
- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion SIO_000772 17478476 NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_provenance.
- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion wasDerivedFrom befree-20140225 NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_provenance.
- NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_assertion wasGeneratedBy ECO_0000203 NP296575.RAJDzAeBBuwJSbMV_wiDHf-xT1gsquK224d4Ko2B6XQzU130_provenance.