Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_assertion wasGeneratedBy ECO_0000218 NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_assertion wasDerivedFrom uniprot-2016 NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_assertion SIO_000772 17431882 NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_assertion evidence source_evidence_curated NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.
- NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_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." NP4956.RA3pCw6ytXBaz62ZcKj22Fl8KOheH-aPaPOoLvBID6Bhw130_provenance.