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Article Details

Journal Title
Human Mutation
Volume
2024
Article Title
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency
List of Authors
  • Karin Naess(ORCID ID: https://orcid.org/0000-0003-4310-7927)
  • Sofia Ygberg(ORCID ID: https://orcid.org/0000-0002-3854-2716)
  • Lucía Peña-Pérez(ORCID ID: https://orcid.org/0000-0002-5044-7754)
  • Nicole Lesko(ORCID ID: https://orcid.org/0000-0001-8770-1878)
  • Rolf Wibom(ORCID ID: https://orcid.org/0000-0001-6721-4642)
  • Christoph Freyer(ORCID ID: https://orcid.org/0000-0003-0418-1673)
  • Henrik Stranneheim(ORCID ID: https://orcid.org/0009-0009-1335-8021)
  • Anna Wedell(ORCID ID: https://orcid.org/0000-0002-2612-6301)
  • Anna Wredenberg(ORCID ID: https://orcid.org/0000-0002-2500-6121)
Article ID
1611838
Article Type
Research Article
No. of Pages
16 Pages
Corresponding Author
Helene Bruhn
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Invoice Details

Invoice Issue Date
19 May 2024
Type of Reprints
Colored, Covered
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