Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- befree-2016 importedOn "2016-02-19" NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_assertion wasGeneratedBy ECO_0000203 NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_assertion wasDerivedFrom befree-2016 NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_assertion SIO_000772 12750298 NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_assertion evidence source_evidence_literature NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.
- NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_assertion description "[Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP394578.RAdFQy7A-4yjIthJvUNvjY2huFhQxMkTSMSewwu4j7pHU130_provenance.