Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion> ?p ?o ?g. }
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- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion type Assertion NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_head.
- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_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." NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_provenance.
- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion evidence source_evidence_literature NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_provenance.
- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion SIO_000772 11502818 NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_provenance.
- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion wasDerivedFrom befree-20150227 NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_provenance.
- NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_assertion wasGeneratedBy ECO_0000203 NP344007.RAcxu6IWI58LLp7bu68RMchvtAEyMg7C_KKVvwKBTNdQk130_provenance.