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Entry Name Description Category Pathway Gene
H02622 Shukla-Vernon syndrome ... disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative ... Congenital malformation BCORL1 [HSA:63035] [KO:K26199]
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