Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_assertion description "[To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_assertion evidence source_evidence_literature NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_assertion SIO_000772 16752401 NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_assertion wasDerivedFrom befree-2016 NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_assertion wasGeneratedBy ECO_0000203 NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.
- befree-2016 importedOn "2016-02-19" NP553050.RAZ8VkAZLBXL4wKtvhmNp_JZvaSTUz54AU1vT5NmSCaKk130_provenance.