Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion type Assertion NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_head.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion description "[We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_provenance.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion evidence source_evidence_literature NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_provenance.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion SIO_000772 11889467 NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_provenance.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion wasDerivedFrom befree-2016 NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_provenance.
- NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_assertion wasGeneratedBy ECO_0000203 NP347753.RAWu5RvurZJigv0lKu7-qs_z5s_p3cC087reENIKv1o-U130_provenance.