Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion> ?p ?o ?g. }
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- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion type Assertion NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_head.
- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion description "[Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_provenance.
- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion evidence source_evidence_literature NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_provenance.
- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion SIO_000772 20384723 NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_provenance.
- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion wasDerivedFrom befree-2016 NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_provenance.
- NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_assertion wasGeneratedBy ECO_0000203 NP805571.RAJ2p1yP92_baNHahTQGtZV3u9uQU_dLUGZQS5nM-CQsE130_provenance.