Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion> ?p ?o ?g. }
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- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion type Assertion NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_head.
- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion description "[Polyalanine (polyA)-expansion-encoding mutations of aristaless-related homeobox (ARX) cause a spectrum of X-linked ID (XLID) diseases and chronic epilepsy, including infantile spasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_provenance.
- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion evidence source_evidence_literature NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_provenance.
- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion SIO_000772 23246292 NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_provenance.
- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion wasDerivedFrom befree-20140225 NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_provenance.
- NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_assertion wasGeneratedBy ECO_0000203 NP622293.RAeji063Gx9et71hpZ_4tw0G0nxyH6KNs1WKR6o68HU3I130_provenance.