Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion> ?p ?o ?g. }
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- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion type Assertion NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_head.
- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion description "[Escobar syndrome has been recently described as a prenatal form of myasthenia associated with recessive mutations in genes of the neuromuscular junction (CHRNG, CHRNA1, CHRND, RAPSN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_provenance.
- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion evidence source_evidence_literature NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_provenance.
- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion SIO_000772 19155175 NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_provenance.
- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion wasDerivedFrom befree-20140225 NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_provenance.
- NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_assertion wasGeneratedBy ECO_0000203 NP768590.RAXS3AOTKrWTFGvEiWA5D9Ndeyycq59-8Zb9U4ETlfJ8c130_provenance.