Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion> ?p ?o ?g. }
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- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion type Assertion NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_head.
- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion description "[The PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism is identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved motif of the serine/threonine kinase domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_provenance.
- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion evidence source_evidence_literature NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_provenance.
- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion SIO_000772 19087301 NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_provenance.
- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion wasDerivedFrom lhgdn-20090331 NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_provenance.
- NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_assertion wasGeneratedBy ECO_0000203 NP244494.RAJRS-68IJaeicAqg4W3ozlugW8TQU-vnj5CRRl70PexM130_provenance.