Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP272957.RA4X6OJBe_EfusiHtqVAmBYHycOrOP5Lh50grJ4MllYv8#assertion> ?p ?o ?g. }
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- assertion description "[The most common mutation causing the severe form of CAH is a conversion of an A or C at nucleotide (nt) 656 to a G in the second intron of the steroid 21-hydroxylase gene (CYP21) causing aberrant splicing of mRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10381826 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.