Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion> ?p ?o ?g. }
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- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion type Assertion NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_head.
- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_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." NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_provenance.
- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion evidence source_evidence_literature NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_provenance.
- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion SIO_000772 17296897 NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_provenance.
- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion wasDerivedFrom befree-20150227 NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_provenance.
- NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_assertion wasGeneratedBy ECO_0000203 NP328214.RAXH9T8cEmJaA-Nyg-1LjIXYgxyrzILGCCkY-_J3Xsm3M130_provenance.