Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_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." NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_assertion evidence source_evidence_literature NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_assertion SIO_000772 24236044 NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_assertion wasDerivedFrom befree-2016 NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_assertion wasGeneratedBy ECO_0000203 NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1128213.RAaO9eKjSUFTVX_J8JEuI-vL9RPg61ZX2LseETKKPkDbE130_provenance.