Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_assertion description "[Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_assertion evidence source_evidence_literature NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_assertion SIO_000772 14679580 NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_assertion wasDerivedFrom befree-2016 NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_assertion wasGeneratedBy ECO_0000203 NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.
- befree-2016 importedOn "2016-02-19" NP424972.RAQXGq_w5M2VwKCiyyzFdLJHiNJodR77BMYZh7xIUGJCA130_provenance.