Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.
- 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.
- lhgdn-20090331 importedOn "2009-03-31" NP241673.RAcy6N4qWDDmrYKJ9uQpdGPdSTDeU8VifdWl8wcfPhzRQ130_provenance.