Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion> ?p ?o ?g. }
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- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion type Assertion NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_head.
- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_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." NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion evidence source_evidence_literature NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion SIO_000772 18768869 NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion wasDerivedFrom lhgdn-20090331 NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_assertion wasGeneratedBy ECO_0000203 NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.