Biallelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
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Branched-chain amino acid transaminase-1 (BCAT1) initiates the catabolism of branched-chain amino acids (BCAA), which are essential for neurologic function. However, the role of BCAT1 in neurodevelopment is largely unknown. Here, we identify compound heterozyg... ...
