Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_assertion wasGeneratedBy ECO_0000203 NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_assertion wasDerivedFrom befree-20140225 NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_assertion SIO_000772 23330251 NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_assertion evidence source_evidence_literature NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_assertion description "[Now genetic and phenotypic variations have been elucidated in pregnenolone synthesis defects; mutations in the CYP11A1 gene encoding cholesterol side-chain cleavage enzyme (SCC) also cause disordered pregnenolone synthesis, and STAR mutations do not necessarily results in typical CLAH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.
- befree-20140225 importedOn "2014-02-25" NP690907.RAUDffXlk4BlRWnu-IU7zGX8Z0PXPdihp7xK8i23lHsys130_provenance.