Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion type Assertion NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_head.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_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." NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_provenance.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion evidence source_evidence_literature NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_provenance.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion SIO_000772 12736870 NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_provenance.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion wasDerivedFrom befree-2016 NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_provenance.
- NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_assertion wasGeneratedBy ECO_0000203 NP393613.RAOhch-0hL-PStbRYnTvsnOQsW3rv5z66toLqmXz3k6IQ130_provenance.