Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion> ?p ?o ?g. }
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- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion type Assertion NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_head.
- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion description "[The mutations in the StAR gene typically cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by severe adrenal insufficiency in both sexes and complete female external genitalia in genetic males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_provenance.
- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion evidence source_evidence_literature NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_provenance.
- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion SIO_000772 18724044 NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_provenance.
- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion wasDerivedFrom befree-20140225 NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_provenance.
- NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_assertion wasGeneratedBy ECO_0000203 NP545103.RAQ4vgUY6Rvvi9epfRrSiLuRSuEuu0yUzLwfhDjMZqePs130_provenance.