Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion> ?p ?o ?g. }
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- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion type Assertion NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_head.
- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion wasGeneratedBy ECO_0000203 NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_provenance.
- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion wasDerivedFrom lhgdn-20090331 NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_provenance.
- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion SIO_000772 16550584 NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_provenance.
- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion evidence source_evidence_literature NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_provenance.
- NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_assertion description "[Missense mutations within a defined region are associated with dominant low-frequency hearing loss (DFNA6/14/38), while more severe mutations spanning WFS1 are found in Wolfram syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147665.RAr8_-ZAXBAlDmWDz4xfGB92X7Jh5OboT-qD_YB4eZHVM130_provenance.