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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |