Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- befree-2016 importedOn "2016-02-19" NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_assertion wasGeneratedBy ECO_0000203 NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_assertion wasDerivedFrom befree-2016 NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_assertion SIO_000772 8034294 NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_assertion evidence source_evidence_literature NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.
- NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_assertion description "[We have defined the mutations causing congenital adrenal hyperplasia in three Swedish patients carrying a rare haplotype containing two mutated steroid 21-hydroxylase genes (CYP21) in addition to one pseudogene (CYP21P).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1330388.RA_JDMmF8uieBs0tKR93eek7x1BQSr8hNFHNbN3n6HzGg130_provenance.