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Although most pathogenic variants in pyruvate dehydrogenase complex deficiency-associated genes to date are within the coding regions and are likely to be identified on exome sequencing, pathogenic splicing variants outside the canonical splice junction, deep intronic variants, as well as structural variants resulting in pyruvate dehydrogenase complex deficiency, could be identified by genome sequencing

Blank CU, Haining WN, Held W, Hogan PG, Kallies A, Lugli E, et al

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