Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_assertion description "[Five of these, representing 2.5% of the total sample (95% CI: 0.3%-4.6%), including two of ten patients with mental retardation, had clinically detectable anomalies: two 22q11.2 deletions (1.0%), one 47, XYY, and two other novel CNVs--an 8p23.3-p23.1 deletion and a de novo 19p13.3-p13.2 duplication.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_assertion evidence source_evidence_literature NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_assertion SIO_000772 20643418 NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_assertion wasDerivedFrom befree-20140225 NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_assertion wasGeneratedBy ECO_0000203 NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP406841.RAvM8NAmE3lknd5rsp9Qcn0CN1n0gheE2HinOh9URmHIw130_provenance.