Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion> ?p ?o ?g. }
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- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion type Assertion NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_head.
- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_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." NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_provenance.
- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion evidence source_evidence_literature NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_provenance.
- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion SIO_000772 12402331 NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_provenance.
- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion wasDerivedFrom befree-20140225 NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_provenance.
- NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_assertion wasGeneratedBy ECO_0000203 NP901714.RAiutOrICtkbbeHjMLpeBVx6DIYb8NKtZq9K17a62tYSE130_provenance.