Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion> ?p ?o ?g. }
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- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion type Assertion NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_head.
- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_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." NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_provenance.
- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion evidence source_evidence_literature NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_provenance.
- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion SIO_000772 15548205 NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_provenance.
- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion wasDerivedFrom befree-20140225 NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_provenance.
- NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_assertion wasGeneratedBy ECO_0000203 NP898789.RA6NmM0Fa6XYVmVwVZqZSJtR28JMXr74t4pRyUBGLK_f4130_provenance.