Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion> ?p ?o ?g. }
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- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion type Assertion NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_head.
- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion wasGeneratedBy ECO_0000203 NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_provenance.
- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion wasDerivedFrom befree-2016 NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_provenance.
- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion SIO_000772 9731525 NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_provenance.
- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_assertion evidence source_evidence_literature NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_provenance.
- NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_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." NP1403604.RAgE2gJbSKUFXdgFj6VW2ELJ-DZfY9piimlVGi4ISEVZI130_provenance.