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- source_evidence_literature type ECO_0000212 NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_assertion description "[The cell cycle checkpoint kinase 2 (CHEK2) 1100delC variant has recently been identified at high frequency in families with both breast and colorectal cancer, suggesting the possible role of this variant in colorectal cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_assertion evidence source_evidence_literature NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_assertion SIO_000772 17214356 NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_assertion wasDerivedFrom befree-20140225 NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_assertion wasGeneratedBy ECO_0000203 NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP388913.RASiiZSzywyGflV7XhiqeAL-Tnw6MOmYoKAcsq83wNwwI130_provenance.