Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion> ?p ?o ?g. }
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- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion type Assertion NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_head.
- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion description "[This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance.
- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion evidence source_evidence_literature NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance.
- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion SIO_000772 21108397 NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance.
- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion wasDerivedFrom befree-20140225 NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance.
- NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_assertion wasGeneratedBy ECO_0000203 NP189367.RAZXVjPPJz0D_pXacxVULN5623j2WdT4ERr482LXyFqwQ130_provenance.