Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_assertion description "[The absence of detectable peripherin/RDS mutations in these families suggests either that: (i) mutations in other digenic partners are required for pathogenic ROM1 alleles to cause retinal degeneration; (ii) these ROM1 mutations do not cause RP; or (iii) peripherin/RDS mutations are present but were not identified in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_assertion evidence source_evidence_literature NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_assertion SIO_000772 8595413 NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_assertion wasDerivedFrom befree-2016 NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_assertion wasGeneratedBy ECO_0000203 NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1347075.RAEPRqawTVEt7Npc8YKGL06z-uWE1p9dViXsPlWAzSRY0130_provenance.