Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion> ?p ?o ?g. }
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- NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_assertion type Assertion NP1244881.RA8l8IZUWd4qMq_cMDj0Ke2gIUTVO9ZMmBwo6OPRmg8jQ130_head.
- 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.