Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion> ?p ?o ?g. }
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- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion type Assertion NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_head.
- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_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." NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_provenance.
- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion evidence source_evidence_curated NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_provenance.
- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion SIO_000772 18728071 NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_provenance.
- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion wasDerivedFrom ctd_human-20130708 NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_provenance.
- NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_assertion wasGeneratedBy ECO_0000218 NP31415.RAb0sj4-QIKJ57X78nUvgFa-r2qCkZX56s9k5GrEqWwLs130_provenance.