Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP332428.RAO12pbpsl57UWPeYqT13sOwe3ephqFxvSL82Bmod2l7o#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9731525 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-activated kinase) gene, which encodes a serine-threonine kinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.