Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion> ?p ?o ?g. }
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- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion type Assertion NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_head.
- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion wasGeneratedBy ECO_0000203 NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_provenance.
- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion wasDerivedFrom lhgdn-20090331 NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_provenance.
- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion SIO_000772 16550584 NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_provenance.
- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_assertion evidence source_evidence_literature NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_provenance.
- NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_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." NP216205.RAj-HNP4Pc8Gec5h1bYaWFzOASrfdIAl5gKfNvSPWzI9s130_provenance.