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http://purl.uniprot.org/SHA-384/6D5575DDD36FFC090F02DB3116FE3D2D56D0B9D0E2051E98FA517B07C258E35C3313327985F4F173AD7469D1C2E0889Bhttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6D5575DDD36FFC090F02DB3116FE3D2D56D0B9D0E2051E98FA517B07C258E35C3313327985F4F173AD7469D1C2E0889Bhttp://www.w3.org/2000/01/rdf-schema#comment"In a family with MODY diabetes three affected subjects had the mutation c.2107C-T/p.R703C. The affected amino acid is strongly conserved and the variant suggested to be probably damaging by prediction programs. The proband developed diabetes 14 years old with no type 1 auto-antibodies and required insulin. There was no familial hearing impairment."xsd:string
http://purl.uniprot.org/uniprot/#_BE77D5E6EEE2FA72631317AE110835A8B75F984A44579E2EFC0D1D4F23C9D92042E7E1219DD8F2CE2B684ADE50799C7Ehttp://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/6D5575DDD36FFC090F02DB3116FE3D2D56D0B9D0E2051E98FA517B07C258E35C3313327985F4F173AD7469D1C2E0889B
http://purl.uniprot.org/uniprot/A0A0S2Z4V6http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6D5575DDD36FFC090F02DB3116FE3D2D56D0B9D0E2051E98FA517B07C258E35C3313327985F4F173AD7469D1C2E0889B
http://purl.uniprot.org/uniprot/#_A0A0S2Z4V6-mappedCitation-22662265http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/6D5575DDD36FFC090F02DB3116FE3D2D56D0B9D0E2051E98FA517B07C258E35C3313327985F4F173AD7469D1C2E0889B