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- source_evidence_literature type ECO_0000212 NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_assertion description "[Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_assertion evidence source_evidence_literature NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_assertion SIO_000772 21958693 NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_assertion wasDerivedFrom befree-2016 NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_assertion wasGeneratedBy ECO_0000203 NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.
- befree-2016 importedOn "2016-02-19" NP927389.RA2FDFQtjI3_3EVeUOt3J7Ai9N6xdsotRd7KeFrrMHZDo130_provenance.