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- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion type Assertion NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_head.
- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion description "[Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_provenance.
- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion evidence source_evidence_literature NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_provenance.
- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion SIO_000772 24236044 NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_provenance.
- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion wasDerivedFrom befree-2016 NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_provenance.
- NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_assertion wasGeneratedBy ECO_0000203 NP1128218.RAqdMXsG_2-4iExHGXwr7SA4R47YoZjb49HQsKNfAsvtA130_provenance.