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Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D>
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http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D
http://www.w3.org/2000/01/rdf-schema#comment
"heterozygous nonsense POFUT1 mutations c.210G>A (p.Trp70*) and c.871C>T (p.Gln291*) were identified in Probands 1 and 2 respectively. The mutations segregated perfectly with the phenotypes in both families."
xsd:string
http://purl.uniprot.org/uniprot/#_5E498C99B614D75423AC42CA3B16B7DF9986A7D8E1E00B4ECA1556772C043110F364E3BC5B088E7827FA6408FCF18EAC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D
http://purl.uniprot.org/uniprot/B4DUV4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D
http://purl.uniprot.org/uniprot/#_B4DUV4-mappedCitation-29797344
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0EEABBCAC339E29A8AF2C20F94439B7F1A542D0DFC9B9B2E461FC385231C9E1C11619252B73FA4E407888373F63A793D