Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1187486.RAwj_s9JtTTDoc1I2b-N3VrQU4-3k-MVfIacjgpmHP16k#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23759358 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.