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- source_evidence_literature type ECO_0000212 NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_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." NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_assertion evidence source_evidence_literature NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_assertion SIO_000772 17478476 NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_assertion wasDerivedFrom befree-2016 NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_assertion wasGeneratedBy ECO_0000203 NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.
- befree-2016 importedOn "2016-02-19" NP608102.RANb1fr185JiV4ZnEjiJDGZfWoRXQS-mjbXUXVu0Ky1uw130_provenance.