Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_assertion description "[A protein-truncating mutation, 1100delC in exon 10, which abolishes the kinase function of CHEK2, has been found in families with Li-Fraumeni syndrome (LFS) and in those with a cancer phenotype that is suggestive of LFS, including breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_assertion evidence source_evidence_literature NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_assertion SIO_000772 12094328 NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_assertion wasDerivedFrom befree-2016 NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_assertion wasGeneratedBy ECO_0000203 NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.
- befree-2016 importedOn "2016-02-19" NP359371.RA7MkAJClV9zQFPDoXqDSgZcItnWT3GOcVczlab0k_brE130_provenance.