Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion> ?p ?o ?g. }
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- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion type Assertion NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_head.
- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion description "[Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular dysfunction and retinitis pigmentosa leading to blindness) in humans and hair bundle disorganization in mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_provenance.
- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion evidence source_evidence_literature NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_provenance.
- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion SIO_000772 18339676 NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_provenance.
- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion wasDerivedFrom befree-20140225 NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_provenance.
- NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_assertion wasGeneratedBy ECO_0000203 NP249564.RABXOLUjCkJOuHY9WuQtd2_hVPzsv05z7qEqKafKnwZYI130_provenance.