Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion> ?p ?o ?g. }
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- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion type Assertion NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_head.
- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_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." NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion evidence source_evidence_literature NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion SIO_000772 24236044 NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion wasDerivedFrom befree-20150227 NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_assertion wasGeneratedBy ECO_0000203 NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.