Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_assertion description "[Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_assertion evidence source_evidence_literature NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_assertion SIO_000772 17641262 NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_assertion wasDerivedFrom befree-20140225 NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_assertion wasGeneratedBy ECO_0000203 NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP931275.RAQQFFLAf0MEXSECrdok8uhEgeTHN5kdnR45DoVHMhEk8130_provenance.