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- source_evidence_literature type ECO_0000212 NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_assertion description "[Analysis of the 1100delC variant in an independent set of 507 patients with familial breast cancer with no BRCA1 and BRCA2 mutations confirmed a significantly elevated frequency of 1100delC (28/507 [5.5%]; OR 4.2; 95% CI 2.4-7.2; P=.0002), compared with controls, with a high frequency also seen in patients with only a single affected first-degree relative (18/291 [6.2%]).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_assertion evidence source_evidence_literature NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_assertion SIO_000772 12094328 NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_assertion wasDerivedFrom befree-2016 NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_assertion wasGeneratedBy ECO_0000203 NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.
- befree-2016 importedOn "2016-02-19" NP359369.RAYd6nFOWO-TPQ7VNwdbQwxzSbrWyzPs67NMHwaO9fNkc130_provenance.