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P49 A novel p.v438sfs*3 (c.1311_1312insa) mutation in methylmalonyl-coa mutase gene in a newborn with severe methylmalonic acidemia
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- P49 A novel p.v438sfs*3 (c.1311_1312insa) mutation in methylmalonyl-coa mutase gene in a newborn with severe methylmalonic acidemia