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- source_evidence_literature type ECO_0000212 NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- befree-20150227 importedOn "2015-02-27" NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion wasGeneratedBy ECO_0000203 NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion wasDerivedFrom befree-20150227 NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion SIO_000772 21343304 NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion evidence source_evidence_literature NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.
- NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_assertion description "[A single mutation (C73R) in the enzyme uroporphyrinogen III synthase (UROIIIS) is responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria (CEP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP767329.RAAkUEv-SnP0q21N9lYvN-7LX4hXb_N_F-GdWW1i0rD1c130_provenance.