Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_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." NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_assertion evidence source_evidence_literature NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_assertion SIO_000772 12402331 NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_assertion wasDerivedFrom befree-20140225 NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_assertion wasGeneratedBy ECO_0000203 NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP913385.RAn6a4Vhhw1VMrGP0cZ3RUQ7mxJkEXByeLBB1eSGOrVt0130_provenance.