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- source_evidence_literature type ECO_0000212 NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_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." NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_assertion evidence source_evidence_literature NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_assertion SIO_000772 17478476 NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_assertion wasDerivedFrom befree-20150227 NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_assertion wasGeneratedBy ECO_0000203 NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724456.RAnvTo3ZHkJLHAhSN6ewYJ5WftL2DJtH_auzKTzeeStEc130_provenance.