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http://purl.uniprot.org/SHA-384/2C29F2EB0CDF3D020FE6D97059CF146791FAF9B0C4BDCA22E189436F4C1411A0FF210B26861809AFB441F361EC42DD68http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2C29F2EB0CDF3D020FE6D97059CF146791FAF9B0C4BDCA22E189436F4C1411A0FF210B26861809AFB441F361EC42DD68http://www.w3.org/2000/01/rdf-schema#comment"The mutational diagnostic rate in this series was 77% which is comparable with reports from other populations. Importantly no founder mutations were identified in this case series. Our results add 7 novel PAX6 pathogenic variants to the aniridia-related mutational spectrum and reveal considerable PAX6 allelic heterogeneity in this population."xsd:string
http://purl.uniprot.org/uniprot/#_25580FA65FD7EAD6C45AB4D0073A9DED668CD37FB4FFDCD52E643F59FD0C0BEF35B24E5A5D3DD2FAFC4DD5E3356D4C35http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/2C29F2EB0CDF3D020FE6D97059CF146791FAF9B0C4BDCA22E189436F4C1411A0FF210B26861809AFB441F361EC42DD68
http://purl.uniprot.org/uniprot/D1KF47http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/2C29F2EB0CDF3D020FE6D97059CF146791FAF9B0C4BDCA22E189436F4C1411A0FF210B26861809AFB441F361EC42DD68
http://purl.uniprot.org/uniprot/#_D1KF47-mappedCitation-28488383http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/2C29F2EB0CDF3D020FE6D97059CF146791FAF9B0C4BDCA22E189436F4C1411A0FF210B26861809AFB441F361EC42DD68