Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_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." NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_assertion evidence source_evidence_literature NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_assertion SIO_000772 14679580 NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_assertion wasDerivedFrom befree-20140225 NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_assertion wasGeneratedBy ECO_0000203 NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP211992.RAQ8r207eqn1yMKdPS4RFzBRAHTHfly07wkg2SP3U9Bmw130_provenance.