Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion type Assertion NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_head.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_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." NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion evidence source_evidence_literature NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion SIO_000772 11502818 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion wasDerivedFrom befree-20150227 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.
- NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_assertion wasGeneratedBy ECO_0000203 NP344074.RAr-gJb_J_GtYtapJ6lVPl9zCuV21h8CLs7rs-7wQGGzA130_provenance.