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DESCRIBE <http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604>
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http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604
http://www.w3.org/2000/01/rdf-schema#comment
"We present the clinical and genetic findings of two siblings harboring the c.1112T>C/p.I371T homozygous mutation in the SPATA7 gene."
xsd:string
http://purl.uniprot.org/uniprot/#_A647CB4A68FC19731BADAD8F8C5FEA660E3933042BFC87F271D7849DF700EAAA7ACCFED108594ADDF422C865E65E7470
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604
http://purl.uniprot.org/uniprot/V9HVY9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604
http://purl.uniprot.org/uniprot/#_V9HVY9-mappedCitation-28481129
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BF4CEC34D14BFDAAF8F0D45A5C335238F7F07415633BFC766CE02D986355B3CDE5E7C40A471D7638CF97D945909CE604