Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion> ?p ?o ?g. }
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- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion type Assertion NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_head.
- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_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." NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_provenance.
- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion evidence source_evidence_literature NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_provenance.
- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion SIO_000772 12736870 NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_provenance.
- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion wasDerivedFrom befree-20150227 NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_provenance.
- NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_assertion wasGeneratedBy ECO_0000203 NP978107.RAAlV_GbLJifXJuIK82uDwOi8zrEo9uUV2OlMTnkx-nyg130_provenance.