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- source_evidence_literature type ECO_0000212 NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_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." NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_assertion evidence source_evidence_literature NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_assertion SIO_000772 20384723 NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_assertion wasDerivedFrom befree-20140225 NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_assertion wasGeneratedBy ECO_0000203 NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP848544.RAnmx52mgLxGeWh_9F9I60CUS3Sy79XQCdRLaa6O4uCyQ130_provenance.