Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion> ?p ?o ?g. }
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- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion type Assertion NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_head.
- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion description "[Hepatoerythropoietic porphyria (HEP) is an inherited metabolic disorder characterized by the accumulation of porphyrins resulting from a deficiency in uroporphyrinogen decarboxylase (UROD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_provenance.
- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion evidence source_evidence_literature NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_provenance.
- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion SIO_000772 10397714 NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_provenance.
- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion wasDerivedFrom befree-2016 NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_provenance.
- NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_assertion wasGeneratedBy ECO_0000203 NP256924.RABi0EGBJtz-cpVEk_ukleRx7QhDmWUlI8t-m-uycQtg0130_provenance.