Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion wasGeneratedBy ECO_0000218 NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion wasDerivedFrom uniprot-20130724 NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion SIO_000772 8088810 NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion evidence source_evidence_curated NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion description "[Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.