Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion> ?p ?o ?g. }
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- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion type Assertion NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_head.
- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion description "[Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_provenance.
- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion evidence source_evidence_literature NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_provenance.
- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion SIO_000772 22252899 NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_provenance.
- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion wasDerivedFrom befree-2016 NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_provenance.
- NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_assertion wasGeneratedBy ECO_0000203 NP953994.RAfUC0ndwzvV_FkTO-JWaEmebTeZhgzEIPjS8Z9q6dCN8130_provenance.