Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion> ?p ?o ?g. }
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- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion type Assertion NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_head.
- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion description "[Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_provenance.
- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion evidence source_evidence_literature NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_provenance.
- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion SIO_000772 11502818 NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_provenance.
- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion wasDerivedFrom befree-2016 NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_provenance.
- NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_assertion wasGeneratedBy ECO_0000203 NP327009.RAP7Z0eg8-M9DFgdghpNNCfB5OYLTsm3dJ-c8lQcA1-fM130_provenance.