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- source_evidence_literature type ECO_0000212 NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_assertion description "[Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), which maps to the Xp21.3-p22.1 interval, and that the clinical picture in these patients can vary from mild mental retardation to severe ISSX with additional neurological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_assertion evidence source_evidence_literature NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_assertion SIO_000772 12736870 NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_assertion wasDerivedFrom befree-2016 NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_assertion wasGeneratedBy ECO_0000203 NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.
- befree-2016 importedOn "2016-02-19" NP393612.RAQMnalg1_uCZ7TJ6YfNoOhdNYDeYXgx3ySX4JZTbUUog130_provenance.