Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency
Abstract Background Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to the loss or decrease of OTC enzyme function, which...
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2024-07-01T00:00:00Z.
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