Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion> ?p ?o ?g. }
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- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion type Assertion NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_head.
- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion description "[We found a novel nonsense mutation (c.1000?G>T, p.(Glu312Ter); also termed p.(E312*)) within a rod domain of GFAP in a 67-year-old Korean man with a history of memory impairment and leukoencephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_provenance.
- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion evidence source_evidence_literature NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_provenance.
- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion SIO_000772 24755947 NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_provenance.
- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion wasDerivedFrom befree-2016 NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_provenance.
- NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_assertion wasGeneratedBy ECO_0000203 NP1175809.RA0s2L1LYs8Ogyi1rH1TsRQ4cI6ihVxOjcefciMeOMR7U130_provenance.