Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP999643.RAn7QyvNGPZZLwUuWhAkn77Mq3uiMvTPcmfNVITlZ_9Wk#assertion> ?p ?o ?g. }
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- assertion description "[263.4?kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23528641 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.