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<http://identifiers.org/omim/614482> <http://www.w3.org/2000/01/rdf-schema#label> "Congenital cataracts, hearing loss, and neurodegeneration" <http://purl.org/np/RAjc5pcdS8Ky7Q5GXYMyHr7QeYE2e48t2PUjKlpuofLlo#assertion> .
<http://www.bigcat.unimaas.nl/rett/as121121685> <http://semanticscience.org/resource/SIO_000628> <http://identifiers.org/ensembl/ENSG00000169359> <http://purl.org/np/RAjc5pcdS8Ky7Q5GXYMyHr7QeYE2e48t2PUjKlpuofLlo#assertion> .
<http://www.bigcat.unimaas.nl/rett/as121121685> <http://semanticscience.org/resource/SIO_000628> <http://identifiers.org/omim/614482> <http://purl.org/np/RAjc5pcdS8Ky7Q5GXYMyHr7QeYE2e48t2PUjKlpuofLlo#assertion> .
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<http://purl.org/np/RAjc5pcdS8Ky7Q5GXYMyHr7QeYE2e48t2PUjKlpuofLlo> <http://purl.org/pav/createdBy> <http://orcid.org/0000-0002-7770-620X> <http://purl.org/np/RAjc5pcdS8Ky7Q5GXYMyHr7QeYE2e48t2PUjKlpuofLlo#pubinfo> .