Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion description "[Mutation analysis showed the presence of a nonsense mutation within BRCA1 exon 12 in two individuals, mother and daughter, affected by breast and peritoneal cancer, respectively, as well as in the son, who had rectal cancer at the early age of 27 years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion evidence source_evidence_literature NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion SIO_000772 12217765 NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion wasDerivedFrom befree-2016 NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion wasGeneratedBy ECO_0000203 NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.
- befree-2016 importedOn "2016-02-19" NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_provenance.