Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP69198.RAkmwzyjLNZYQ3MLzLCv4inRYmU2JPt3tgB62hC9AdzLA#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 12402331 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.