Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion> ?p ?o ?g. }
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- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion type Assertion NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_head.
- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion wasGeneratedBy ECO_0000203 NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_provenance.
- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion wasDerivedFrom befree-2016 NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_provenance.
- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion SIO_000772 18310267 NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_provenance.
- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_assertion evidence source_evidence_literature NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_provenance.
- NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_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." NP658082.RAfA8kRQkrWloUgZkDRt9luhIHTB-yYM3PvjVR2LDvMcU130_provenance.