Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion description "[Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion evidence source_evidence_literature NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion SIO_000772 25475713 NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion wasDerivedFrom befree-2016 NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion wasGeneratedBy ECO_0000203 NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_provenance.