Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion> ?p ?o ?g. }
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- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion type Assertion NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_head.
- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_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." NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_provenance.
- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion evidence source_evidence_literature NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_provenance.
- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion SIO_000772 18768869 NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_provenance.
- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion wasDerivedFrom lhgdn-20090331 NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_provenance.
- NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_assertion wasGeneratedBy ECO_0000203 NP198923.RAoSSCD8uTObLHpJnuZe-5yTVyJVqDRBhf0rLkd6iGh0g130_provenance.