Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion> ?p ?o ?g. }
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- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion type Assertion NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_head.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion wasGeneratedBy ECO_0000203 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion wasDerivedFrom befree-2016 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion SIO_000772 24439481 NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion evidence source_evidence_literature NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.
- NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_assertion description "[We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1146037.RALYc0Tzwl91R0-mXxyzgSKAxaCwcTcj1rPZbP5gZtMto130_provenance.