Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_assertion wasGeneratedBy ECO_0000218 NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_assertion wasDerivedFrom uniprot-2016 NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_assertion SIO_000772 8088810 NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_assertion evidence source_evidence_curated NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.
- NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_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." NP8729.RA4QGDemhNKq4jPhN6YyGg-E7SanpkQjXnIFEI-IrES8c130_provenance.