Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_assertion description "[In humans, however, loss-of-function mutations of TREM2/DAP12 leave myeloid cells unaffected but induce an autosomal recessive disease characterized, together with bone cysts, by a spectrum of pathological lesions in the cortex, thalamus and basal ganglia with clinical symptoms of progressive dementia (polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_assertion evidence source_evidence_literature NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_assertion SIO_000772 15548205 NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_assertion wasDerivedFrom befree-20140225 NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_assertion wasGeneratedBy ECO_0000203 NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP535660.RAVFPMMV9LIL1LLBKNUBtQIrdmhjpdATeZx-k9R6EbI6U130_provenance.