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DESCRIBE <http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729>
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http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729
http://www.w3.org/2000/01/rdf-schema#comment
"In this study a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls."
xsd:string
http://purl.uniprot.org/uniprot/#_3BDCA41E8B6AEDA9F929D4179EB89C304EE643A5B778EFC5D47CDD64F838A6D73C27868A32162BE92DB5B4CE87F6A9E9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729
http://purl.uniprot.org/uniprot/V9HVZ7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729
http://purl.uniprot.org/uniprot/#_V9HVZ7-mappedCitation-18804074
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3654D2ED1D2650F3ED3EFE11C6058368B68A27CAFBF64AC06ADE5A1530CFF703EFFE6811041AFC691BD8C0C91E604729