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DESCRIBE <http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610>
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http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610
http://www.w3.org/2000/01/rdf-schema#comment
"We describe two families with X-linked inheritance and a phenotype consistent with CMT1X with upstream exon-splicing variant in the non-coding region of GJB1"
xsd:string
http://purl.uniprot.org/uniprot/#_A20773826C9E753A3C4EB4BACBABB4B54B2364C5754E3217B01390166312973373B4BFF535D3FCDF8CB962BA683C77F9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610
http://purl.uniprot.org/uniprot/P08034
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610
http://purl.uniprot.org/uniprot/#_P08034-mappedCitation-21504505
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6B0E3BE074B28A744AD9CAF6570B00F55C888522C4FC7AE72EE56CF0A12D363B771D6C14C129A60D5468EA81F082D610