Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1094023.RAASmazbLU2pAYdgSf3cvgf_u7fRPhgwRlJ2JpAgN5U-E#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[Congenital erythropoietic porphyria (CEP; Gunther disease; OMIM 263700) is a rare autosomal recessive disorder caused by a deficiency of uroporphyrinogen III synthase (UROS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15703981 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.