Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1361882.RASGhlgccERDGLG9TEd5d3HxrxxO_9-6anW_hLbx4qq5A#assertion> ?p ?o ?g. }
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- assertion description "[We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 20503325 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.