Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion> ?p ?o ?g. }
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- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion type Assertion NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_head.
- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion wasGeneratedBy ECO_0000203 NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_provenance.
- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion wasDerivedFrom befree-20140225 NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_provenance.
- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion SIO_000772 23599324 NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_provenance.
- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion evidence source_evidence_literature NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_provenance.
- NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_assertion description "[In the keratoconus cohort, a novel heterozygous pathogenic mutation in exon 7 (c.1920G > T; p.Gln640His) of ZEB1 was identified in a family affected with keratoconus and Fuchs' endothelial corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP843333.RAqKNMK-L7BinKTLF9juD3WDkhs40QAD6Osnvh2g4DDXU130_provenance.