Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_assertion description "[Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_assertion evidence source_evidence_literature NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_assertion SIO_000772 21932316 NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_assertion wasDerivedFrom befree-2016 NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_assertion wasGeneratedBy ECO_0000203 NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.
- befree-2016 importedOn "2016-02-19" NP924992.RAtwzCzK46AFAUmWjTKd3ONrE0-R3RMwWpZv5qPx_OZbY130_provenance.