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Entry | Name | Description | Category | Pathway | Gene |
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H02594 | Congenital facial palsy with ptosis and velopharyngeal dysfunction | ... ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton ... | Nervous system disease | TUBB6 [HSA:84617] [KO:K07375] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |