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Entry Name Description Category Pathway Gene
H02703 VISS syndrome ... and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family ... Congenital malformation IPO8 [HSA:10526] [KO:K18755]
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