Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_assertion description "[Analysis of the protoporphyrinogen oxidase (PPOX) gene underlying VP resulted in the identification of the founder mutation R59W in a heterozygous state in this patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_assertion evidence source_evidence_literature NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_assertion SIO_000772 15660919 NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_assertion wasDerivedFrom befree-20140225 NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_assertion wasGeneratedBy ECO_0000203 NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP250689.RAL-cDlHakwaLxc7Fi1Mcwfx5YL2JxUuksfawQjuSU9lw130_provenance.