Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_assertion description "[Furthermore, mutations in the PMP70 gene have also been identified in two Zellweger syndrome patients from CG1, raising the possibility that CG1 patients may represent a mixture of PEX1-deficient and PMP70-deficient individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_assertion evidence source_evidence_curated NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_assertion SIO_000772 10447258 NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_assertion wasDerivedFrom ctd_human-20130708 NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_assertion wasGeneratedBy ECO_0000218 NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP25751.RAz5L0A1cXt2rvRckIz0gN5xXlP34Jtx2sD0PkBvsypEo130_provenance.