Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion> ?p ?o ?g. }
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- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion type Assertion NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_head.
- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion description "[Here we present a patient with severe chronic granulomatous disease (CGD) caused by insertion of an L1 sequence into intron 5 of the X-lined gene CYBB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_provenance.
- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion evidence source_evidence_literature NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_provenance.
- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion SIO_000772 10980575 NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_provenance.
- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion wasDerivedFrom befree-2016 NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_provenance.
- NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_assertion wasGeneratedBy ECO_0000203 NP294588.RAuVd0vEOdmMAEpj0ZQwYZRbUPWsAPTfK_B_-zkMdaTCY130_provenance.