Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion> ?p ?o ?g. }
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- NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_assertion type Assertion NP367244.RA0rupqeOauJi9LAi2sgsSbYHgbZv_5U9FqaiQ6jZpKgI130_head.
- 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.