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DESCRIBE <http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73>
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http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73
http://www.w3.org/2000/01/rdf-schema#comment
"The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD."
xsd:string
http://purl.uniprot.org/uniprot/#_6C44BF660CD0837638B5DE9A4D2AC58A5692770BB8970136C1FE577AEA6295C25B941C7DEC0FDD673C06B2DAFA4D2CB8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73
http://purl.uniprot.org/uniprot/A0A0S2Z3V7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73
http://purl.uniprot.org/uniprot/#_A0A0S2Z3V7-mappedCitation-32372306
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/AB84B7DC2BEC421F248E7034D7F64C38EBD617D135987E6E10AF43DB966BF4E92AEFF673AF632A9E7BEE286A028A1B73