Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion> ?p ?o ?g. }
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- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion type Assertion NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_head.
- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_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." NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance.
- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion evidence source_evidence_literature NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance.
- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion SIO_000772 12094328 NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance.
- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion wasDerivedFrom befree-20150227 NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance.
- NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_assertion wasGeneratedBy ECO_0000203 NP862846.RAWT6X6Gfv1P5mOHev_Mx6bOkLV75Qp2Da5Zh3Z3FDJxY130_provenance.