Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion> ?p ?o ?g. }
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- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion type Assertion NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_head.
- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_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." NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_provenance.
- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion evidence source_evidence_literature NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_provenance.
- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion SIO_000772 11502818 NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_provenance.
- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion wasDerivedFrom befree-20140225 NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_provenance.
- NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_assertion wasGeneratedBy ECO_0000203 NP935289.RAjM2S8JZeUdIfxohZHfRomx2zxysxRye4HUsJSRysz-I130_provenance.