Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_assertion description "[Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_assertion evidence source_evidence_literature NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_assertion SIO_000772 10029606 NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_assertion wasDerivedFrom befree-2016 NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_assertion wasGeneratedBy ECO_0000203 NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.
- befree-2016 importedOn "2016-02-19" NP246364.RACbOJU7a-lccLlQ5IcB0gawAf749wsuFiKuoy5uZKtfg130_provenance.