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- source_evidence_literature type ECO_0000212 NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_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." NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion evidence source_evidence_literature NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion SIO_000772 18728071 NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion wasDerivedFrom befree-20150227 NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion wasGeneratedBy ECO_0000203 NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_provenance.