Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1126050.RAP9KcGVhXe2SuOtUQcbvgWYUPgFCR1BCmwAZvLimqDy0#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18310267 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[BS with sensorineural deafness (SND, OMIM602522) is a newly identified phenotype caused by mutations in the BSND gene that encodes barttin, a beta-subunit for chloride channel ClC-Ka and ClC-Kb and classified as type IV BS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.