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- source_evidence_literature type ECO_0000212 NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_assertion description "[Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_assertion evidence source_evidence_literature NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_assertion SIO_000772 18728071 NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_assertion wasDerivedFrom befree-2016 NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_assertion wasGeneratedBy ECO_0000203 NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.
- befree-2016 importedOn "2016-02-19" NP689737.RAKEpqOrevV124gAxlfo7SGu1_tn2OTxgNrvFHtW_Etdc130_provenance.