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- source_evidence_literature type ECO_0000212 NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_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." NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_assertion evidence source_evidence_literature NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_assertion SIO_000772 17478476 NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_assertion wasDerivedFrom befree-20140225 NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_assertion wasGeneratedBy ECO_0000203 NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP565608.RABQXk06F1jo3Yfk6Vx6us-sVAOiytu0_P6SmA-rtSJk8130_provenance.