Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP835505.RAOzcwuRqWvXQkNcZm2XRxfg6k-3dsNeaJ4apMLIwX4GY130_provenance.