Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion> ?p ?o ?g. }
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- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion type Assertion NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_head.
- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion description "[We have identified a new mutation in the FBP (fructose 1,6-bisphosphate) aldolase A gene in a child with suspected haemolytic anaemia associated with myopathic symptoms at birth and with a subsequent diagnosis of arthrogryposis multiplex congenita and pituitary ectopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_provenance.
- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion evidence source_evidence_literature NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_provenance.
- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion SIO_000772 14766013 NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_provenance.
- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion wasDerivedFrom befree-20140225 NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_provenance.
- NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_assertion wasGeneratedBy ECO_0000203 NP936371.RAfgUefzEH42iQA4iSCjyU2UWPDKK99IyjVX1YiboIcvs130_provenance.