Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1361986.RAFd6hIWD2qe_FojhHNsfsGvCUX1KJc_caRWEeXDEDI04#assertion> ?p ?o ?g. }
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- assertion description "[In this series, we found a 5q35 deletion removing the NSD1 gene in a patient with severe epilepsy, profound MR and, retrospectively, craniofacial features of Sotos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16773131 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.