Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_assertion description "[Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the most common type of autosomal-recessive syndromic deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_assertion evidence source_evidence_literature NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_assertion SIO_000772 19426954 NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_assertion wasDerivedFrom befree-20140225 NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_assertion wasGeneratedBy ECO_0000203 NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP670021.RAVHShgy_gQNeMT0NQptRXBfK6j8yFPKv05bXSaREkWYQ130_provenance.