Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion> ?p ?o ?g. }
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- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion type Assertion NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_head.
- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion description "[Mutations in the SLC26A4 gene encoding for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_provenance.
- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion evidence source_evidence_literature NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_provenance.
- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion SIO_000772 22116360 NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_provenance.
- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion wasDerivedFrom befree-2016 NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_provenance.
- NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_assertion wasGeneratedBy ECO_0000203 NP941724.RAL2NCj9mLXRZrILE2FFn_4gzIZikjtzn0d3-lgHiFFk8130_provenance.