Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion> ?p ?o ?g. }
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- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion type Assertion NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_head.
- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_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." NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_provenance.
- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion evidence source_evidence_literature NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_provenance.
- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion SIO_000772 23759358 NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_provenance.
- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion wasDerivedFrom befree-20150227 NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_provenance.
- NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_assertion wasGeneratedBy ECO_0000203 NP824102.RAlHarMGyolz4UPbnbwKIadWsaR9K8-J6c6XnfA2Jsvwg130_provenance.