Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion> ?p ?o ?g. }
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- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion type Assertion NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_head.
- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion description "[Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_provenance.
- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion evidence source_evidence_literature NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_provenance.
- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion SIO_000772 18294360 NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_provenance.
- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion wasDerivedFrom befree-20140225 NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_provenance.
- NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_assertion wasGeneratedBy ECO_0000203 NP831794.RAuobUHjNO6abAsDEDxTfBY0lzpp3QsiPl2zKj3E2LSLw130_provenance.