Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion> ?p ?o ?g. }
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- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion type Assertion NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_head.
- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion wasGeneratedBy ECO_0000203 NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.
- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion wasDerivedFrom befree-20140225 NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.
- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion SIO_000772 19251738 NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.
- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion evidence source_evidence_literature NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.
- NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP404727.RAiVOqfsmsNhnbmMr2A5AJwIx3-aHIeSlEx8LSaNxGgkk130_provenance.