Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion> ?p ?o ?g. }
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- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion type Assertion NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_head.
- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_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." NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_provenance.
- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion evidence source_evidence_literature NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_provenance.
- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion SIO_000772 10502787 NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_provenance.
- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion wasDerivedFrom befree-2016 NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_provenance.
- NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_assertion wasGeneratedBy ECO_0000203 NP264322.RAV1HEk_OpSxKqf9-DwCRbWNcoqJE1z9gfa9m6fodWFto130_provenance.