Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion type Assertion NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_head.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion description "[We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X. Disruption of the same gene in two unrelated patients who have identical phenotypes (consisting of early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation) strongly suggests that lack of functional STK9 protein causes severe ISSX and that STK9 is a second X-chromosomal locus for this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_provenance.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion evidence source_evidence_literature NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_provenance.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion SIO_000772 12736870 NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_provenance.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion wasDerivedFrom befree-20150227 NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_provenance.
- NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_assertion wasGeneratedBy ECO_0000203 NP719324.RARsfy7sg4nJ3GR7LquYaLbLCoJaurAjPpCawDl2KD7Gg130_provenance.