Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP894439.RAcu7XbQ4nk4TaWnPAb1BtdoSdsweqCNdAoTORd59KUOQ#assertion> ?p ?o ?g. }
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- assertion description "[RAG1 Arg972Qln mutation, located in the primary sequence near catalytic amino acid Glu962, is hypersensitive to certain coding flank sequences in a patient with Omenn syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18768869 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.