Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion> ?p ?o ?g. }
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- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion type Assertion NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_head.
- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_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." NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_provenance.
- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion evidence source_evidence_literature NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_provenance.
- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion SIO_000772 20384723 NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_provenance.
- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion wasDerivedFrom befree-20150227 NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_provenance.
- NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_assertion wasGeneratedBy ECO_0000203 NP978096.RAzkAVwsmVAVupaIDMPPT8mmkR5d2MvMsnJXyZMjObCzs130_provenance.