Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_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." NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_assertion evidence source_evidence_literature NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_assertion SIO_000772 17478476 NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_assertion wasDerivedFrom befree-20140225 NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_assertion wasGeneratedBy ECO_0000203 NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP864809.RAU5SeZAJjy5kkOXd0-Jnkmg81Nw5-Cr3o-mQy3tT5P_A130_provenance.