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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
Document Type
Artikel
Author
Bruhn, H; Naess, K; Ygberg, S; Pena-Perez, L; Lesko, N; Wibom, R; Freyer, C; Stranneheim, H; Wedell, A; Wredenberg, A
Source
HUMAN MUTATION. 2024
Subject
Medicin och hälsovetenskap
Medicinska och farmaceutiska grundvetenskaper
Neurovetenskaper
Cell- och molekylärbiologi
Language
English
English
ISSN
1059-7794

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