Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion> ?p ?o ?g. }
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- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion type Assertion NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_head.
- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion description "[To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_provenance.
- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion evidence source_evidence_literature NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_provenance.
- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion SIO_000772 17296897 NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_provenance.
- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion wasDerivedFrom befree-20150227 NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_provenance.
- NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_assertion wasGeneratedBy ECO_0000203 NP328203.RA9NU8ryk8SAq34LC7F2xjeRgf1_JkXDMAeRhqLG_rbK8130_provenance.