Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion> ?p ?o ?g. }
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- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion type Assertion NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_head.
- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion description "[A frame-shift mutation that causes a form of syndromic epilepsy (CASPR2-1253*), results in a secreted protein with seemingly normal folding and oligomerization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_provenance.
- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion evidence source_evidence_literature NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_provenance.
- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion SIO_000772 22872700 NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_provenance.
- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion wasDerivedFrom befree-20140225 NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_provenance.
- NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_assertion wasGeneratedBy ECO_0000203 NP450969.RAnwsy3hC1F-KQTptyI9NZYil7-gkcWHfZAELDtHVEavc130_provenance.