Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1388626.RAIsTh8tR3iqHcPrDLavbcvi7S4vP-U51WLBnnAmVCAgA#assertion> ?p ?o ?g. }
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- assertion description "[A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21271662 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.