Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion> ?p ?o ?g. }
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- NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_assertion type Assertion NP724457.RAbtFryqsOyRdYkn668dGnrf2rlX6IULudK-h0I6FaJiE130_head.
- 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.