Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion> ?p ?o ?g. }
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- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion type Assertion NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_head.
- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion wasGeneratedBy ECO_0000203 NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_provenance.
- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion wasDerivedFrom befree-2016 NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_provenance.
- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion SIO_000772 10401000 NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_provenance.
- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion evidence source_evidence_literature NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_provenance.
- NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_assertion description "[Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP257335.RA4WwF4mkRlBoRYdgVT3-xkqBWYbQKNbYrGFBMOUetfDk130_provenance.