Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion type Assertion NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_head.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_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." NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_provenance.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion evidence source_evidence_literature NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_provenance.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion SIO_000772 22872700 NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_provenance.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion wasDerivedFrom befree-20150227 NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_provenance.
- NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_assertion wasGeneratedBy ECO_0000203 NP881272.RAmFaY-g4ymovfUijch5T5lzmIJfAWuCfKb1T1bJ6v7J8130_provenance.