Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion> ?p ?o ?g. }
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- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion type Assertion NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_head.
- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_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." NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_provenance.
- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion evidence source_evidence_literature NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_provenance.
- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion SIO_000772 15703981 NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_provenance.
- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion wasDerivedFrom befree-2016 NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_provenance.
- NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_assertion wasGeneratedBy ECO_0000203 NP480295.RAVtEbtgyw1-z6jDffL63MGHgw9oeCnrUiVbQ_Bn0aGLA130_provenance.