Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_assertion description "[Most cases of congenital adrenal hyperplasia (CAH) are caused by mutations in this gene, and most mutations appear to arise from gene conversion-like events involving the transfer of deleterious sequences from the pseudogene, CYP21P, which is located within 30 kb of CYP21.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_assertion evidence source_evidence_literature NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_assertion SIO_000772 9836705 NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_assertion wasDerivedFrom befree-20150227 NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_assertion wasGeneratedBy ECO_0000203 NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP345352.RAFgQIbilY4-SZlInmNIn7TFeNaRj0hviM8BXqsAi3KcE130_provenance.