Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- befree-2016 importedOn "2016-02-19" NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_assertion wasGeneratedBy ECO_0000203 NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_assertion wasDerivedFrom befree-2016 NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_assertion SIO_000772 8826452 NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_assertion evidence source_evidence_literature NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.
- NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_assertion description "[Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1358382.RAh0NMiiNmQdUSxCky4FYXEbX9RwuASIRM9nAFFJO0F84130_provenance.