Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion> ?p ?o ?g. }
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- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion type Assertion NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_head.
- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion description "[Mutations in the PEX1 gene, which encodes a protein of the AAA ATPase family involved in peroxisome matrix protein import, account for the genetic defect in more than half of the patients in this PBD subgroup.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_provenance.
- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion evidence source_evidence_literature NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_provenance.
- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion SIO_000772 12402331 NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_provenance.
- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion wasDerivedFrom befree-20140225 NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_provenance.
- NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_assertion wasGeneratedBy ECO_0000203 NP266380.RAiHL8OR4KM7o4ROW5iWbHuz-QEDdEi9djzd9StCO9z48130_provenance.