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- source_evidence_literature type ECO_0000212 NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_assertion wasGeneratedBy ECO_0000203 NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_assertion wasDerivedFrom befree-20150227 NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_assertion SIO_000772 17935271 NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_assertion evidence source_evidence_literature NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.
- NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_assertion description "[This review reports the most characteristic hereditary cancer syndromes along with their phenotypical and genetic variables that have been described, but it mainly focuses on Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is linked to pathogenic mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6, Familial Adenomatous Polyposis (FAP) caused by high-penetrant mutations within the APC gene and Hereditary Breast/Ovarian Cancer (HBOC) linked to mutations within BRCA1 and BRCA2 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP569904.RAAPNdSxu7NMcqTcMfj2xEI7gARrApLBzqC8OO08DYsI8130_provenance.