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DESCRIBE <http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B>
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http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B
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/#_FADFEC948C365BA653F7F93EB069AE6081FCFAF11D4891B1799C783F394068FA675B44C6F5F699806B216B7F3794EC3F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B
http://purl.uniprot.org/uniprot/Q6PJ43
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B
http://purl.uniprot.org/uniprot/#_Q6PJ43-mappedCitation-18804074
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CA9F09E7836A7F04AF058A0C3E3BB3CE6B3114F281365E3061656EA08E0725C488917D4C5899E285D4986D082CF6464B