Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion> ?p ?o ?g. }
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- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion type Assertion NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_head.
- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion description "[Erythropoietic protoporphyria (EPP) is an inherited defect of the ferrochelatase (FECH) gene characterized by the accumulation of toxic protoporphyrin in the liver and bone marrow resulting in severe skin photosensitivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_provenance.
- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion evidence source_evidence_curated NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_provenance.
- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion SIO_000772 15284838 NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_provenance.
- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion wasDerivedFrom ctd_human-20150221 NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_provenance.
- NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_assertion wasGeneratedBy ECO_0000218 NP14570.RAViV7ZqSMB8pbzieqn2ixN9Ex26QCmNdivQyt63YG_rU130_provenance.