Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- befree-20150227 importedOn "2015-02-27" NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_assertion wasGeneratedBy ECO_0000203 NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_assertion wasDerivedFrom befree-20150227 NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_assertion SIO_000772 10466419 NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_assertion evidence source_evidence_literature NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.
- NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_assertion description "[alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475615.RAPQgLXN3iRHL_cZc5qbXJbwMiQXNGD9SW7PkPQNm4Q5A130_provenance.