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Entry Name Description Category Pathway Gene
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]
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