Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion> ?p ?o ?g. }
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- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion type Assertion NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_head.
- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion description "[Usher syndromeIb (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_provenance.
- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion evidence source_evidence_literature NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_provenance.
- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion SIO_000772 10502787 NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_provenance.
- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion wasDerivedFrom befree-20140225 NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_provenance.
- NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_assertion wasGeneratedBy ECO_0000203 NP494147.RAWT9Jimiq-PniUc87kUUJXSvT9E7QqYYPXYLKbgz-Rhw130_provenance.