Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion> ?p ?o ?g. }
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- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion type Assertion NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_head.
- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion description "[Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_provenance.
- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion evidence source_evidence_literature NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_provenance.
- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion SIO_000772 23759358 NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_provenance.
- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion wasDerivedFrom befree-2016 NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_provenance.
- NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_assertion wasGeneratedBy ECO_0000203 NP1085257.RAHe_5riRNPIliFDwOwfpBhIztblHrE5lIsYr0YTsma4E130_provenance.