Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP28897.RAr8xUi8HJfJqCf36gb3C9O_UtccTnJKPQDhKusZLOXxg#assertion> ?p ?o ?g. }
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- assertion description "[We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10323730 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.