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- source_evidence_literature type ECO_0000212 NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_assertion description "[Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_assertion evidence source_evidence_literature NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_assertion SIO_000772 24058414 NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_assertion wasDerivedFrom befree-20150227 NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_assertion wasGeneratedBy ECO_0000203 NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724565.RAzUCBDZ7teIH-68IBVf5__fge-1W2KnYGxcLfemihg7I130_provenance.