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Structural and functional defects of mitochondrial serine hydroxymethyltransferase genetic variants responsible for a novel neurodevelopmental syndrome
In 2020 seven genetic variants of the mitochondrial serine hydroxymethyl transferase (SHMT2) were linked to a novel brain and heart developmental syndrome. SHMT2 is a pyridoxal 5′-phosphate (PLP) binding enzyme involved in one-carbon metabolism and mitochondrial redox homeostasis, which also shows s
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