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Entry Name Description Category Pathway Gene
H02523 Genitourinary and/or brain malformation syndrome Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental ... Congenital malformation PPP1R12A [HSA:4659] [KO:K06270]
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