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- source_evidence_literature type ECO_0000212 NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_assertion description "[We report (a) previously unknown high-frequency copy-neutral LOH (uniparental disomy) in FL on chromosomes 1p (approximately 50%) and 6p (approximately 30%); (b) that del6q is complex, as reported, with at least two regions of minimal common loss at 6q13-15 and 6q23-24, and that in addition, approximately 8% of FL specimens contain a homozygous deletion at 6q23.3-24.1 that spans the negative NFkappaB regulator A20 and the p53 apoptosis effector PERP; (c) that combined analysis of chromosome 17p for LOH, copy number, and p53 mutations shows that most p53 mutations in FL do not involve del17p.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_assertion evidence source_evidence_literature NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_assertion SIO_000772 17699855 NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_assertion wasDerivedFrom befree-20150227 NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_assertion wasGeneratedBy ECO_0000203 NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP750659.RAUGeFKOWZIp3h7mWN0Av5AezNnme8ZX2AftvyTMfp_gg130_provenance.