Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion> ?p ?o ?g. }
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- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion type Assertion NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_head.
- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_provenance.
- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion evidence source_evidence_literature NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_provenance.
- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion SIO_000772 17641262 NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_provenance.
- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion wasDerivedFrom befree-20140225 NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_provenance.
- NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_assertion wasGeneratedBy ECO_0000203 NP540033.RA0ZtW3vwjc5x3kINlDJvKiBBkpF5EOTZbzKu89LkNXVQ130_provenance.