Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1093788.RAvr7u-q0MpYP-Lm6eMR7YqW1A3iSditJd-qLDochs-yc#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 9211196 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Hepatoerythropoietic porphyria usually develops before the age of 2 years; patients are homo- or heteroallelic for uroporphyrinogen decarboxylase mutations, at least one of which is known to cause type II PCT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.