Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

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Bruhn H, Naess K, Ygberg S, Peña-Pérez L, Lesko N, Wibom R, Freyer C, Stranneheim H, Wedell A, Wredenberg A

Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]

Clinical Genomics Stockholm [Service]

DOI 10.1155/2024/1611838

Crossref 10.1155/2024/1611838