Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion> ?p ?o ?g. }
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- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion type Assertion NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_head.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion wasGeneratedBy ECO_0000203 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion wasDerivedFrom befree-20150227 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion SIO_000772 10401000 NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_assertion evidence source_evidence_literature NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.
- NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_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." NP447061.RA7PZc2igNXHSqbomnEzTB9d1QzHVLAg1Ljg-eHDQc9UM130_provenance.