Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_assertion description "[The NBS1 protein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the DNA repair proteins Rad50 and Mrel1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_assertion evidence source_evidence_literature NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_assertion SIO_000772 10839544 NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_assertion wasDerivedFrom befree-2016 NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_assertion wasGeneratedBy ECO_0000203 NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.
- befree-2016 importedOn "2016-02-19" NP285552.RAGpGxE2hSKB6jiOWhemfgmq58W6lHtn1zIoGRKmph5sc130_provenance.