Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion> ?p ?o ?g. }
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- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion type Assertion NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_head.
- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_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." NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_provenance.
- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion evidence source_evidence_literature NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_provenance.
- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion SIO_000772 21108397 NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_provenance.
- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion wasDerivedFrom befree-2016 NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_provenance.
- NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_assertion wasGeneratedBy ECO_0000203 NP854831.RAti4KgxnGWs2U5aPpq_RXAmAavsHwnW1kdNTVoUNXp7w130_provenance.