Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_assertion description "[Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_assertion evidence source_evidence_literature NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_assertion SIO_000772 21871435 NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_assertion wasDerivedFrom befree-2016 NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_assertion wasGeneratedBy ECO_0000203 NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.
- befree-2016 importedOn "2016-02-19" NP919548.RAhDfryd1jFkw4aoJlOyRNdZHF1LOHHvPudiMy3rveOJU130_provenance.