Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1349564.RAnC271rJJpWHTkUzbXAzUgeH3voFzGFClYgALtVt85bs#assertion> ?p ?o ?g. }
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- assertion description "[The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22949144 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.