Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion> ?p ?o ?g. }
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- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion type Assertion NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_head.
- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion wasGeneratedBy ECO_0000218 NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_provenance.
- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion wasDerivedFrom uniprot-20150221 NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_provenance.
- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion SIO_000772 17431882 NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_provenance.
- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion evidence source_evidence_curated NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_provenance.
- NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_assertion description "[The c.1235+3A>G splice-site mutation did not entirely suppress correct splicing and we found a residual wild-type IGHMBP2 mRNA steady-state level of 24.4+/-6.9%, which was, however, not sufficient to avert SMARD1 in this patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2491.RAYhM5V7T2JwMcjrFp1LK_EKvstnPXnd_mxlFzHqooFyw130_provenance.