Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP272850.RAdiMUVkj_a0X8pt0y5Fyjcpm98iV5TM3JDlUhKPRmbo0#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[We studied membrane binding and enzyme function of six variant forms of human steroid 21-hydroxylase (P450c21), a mutant (P30Q) from a patient with congenital adrenal hyperplasia, four artificial deletions in the amino terminal region (delS1 and del S2; the first and second hydrophobic segment, delS3; the region in between, delS4; the combination of these), and one naturally ocurring polymorphism in a region implicated to be critical for membrane integration (delL10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10198222 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- BEFREE importedOn "2017-02-19" provenance.