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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
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- Bruhn, H (author)
- Karolinska Institutet
- Naess, K (author)
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- Ygberg, S (author)
- Karolinska Institutet
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- Stranneheim, H (author)
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- (creator_code:org_t)
- 2024
- 2024
- English.
- In: HUMAN MUTATION. - 1059-7794. ; 2024
- Journal article (other academic/artistic)
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- Bruhn, H
- Naess, K
- Ygberg, S
- Pena-Perez, L
- Lesko, N
- Wibom, R
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- Freyer, C
- Stranneheim, H
- Wedell, A
- Wredenberg, A
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- HUMAN MUTATION
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