Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion> ?p ?o ?g. }
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- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion type Assertion NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_head.
- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion description "[A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_provenance.
- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion evidence source_evidence_literature NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_provenance.
- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion SIO_000772 7706766 NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_provenance.
- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion wasDerivedFrom befree-2016 NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_provenance.
- NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_assertion wasGeneratedBy ECO_0000203 NP1319170.RACvMWl0-lPyD83Qv0Sf7T6_hkrfvfJfaeloYI1ya3HN8130_provenance.