Splice effect of a synonymous variant in <i>AP4B1</i> : multiomics approach establishes the diagnosis in two sisters with spastic paraplegia

Susann Badmann, Alice Saparov, Philip Harrer, Juliane Beuschlein, Cornelia Daumer-Haas, Elisabeth Graf, Christina Ludwig, Julia Mergner, Theresa Brunet, Maureen Jacob, Holger Prokisch, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner

Open source

DOI: 10.1155/humu/8645235
Published: 2026-01
Container: Human Mutation
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1155/humu/8645235,
  title = {Splice effect of a synonymous variant in
                    <i>AP4B1</i>
                    : multiomics approach establishes the diagnosis in two sisters with spastic paraplegia},
  author = {Susann Badmann and Alice Saparov and Philip Harrer and Juliane Beuschlein and Cornelia Daumer-Haas and Elisabeth Graf and Christina Ludwig and Julia Mergner and Theresa Brunet and Maureen Jacob and Holger Prokisch and Juliane Winkelmann and Thomas Meitinger and Michael Zech and Matias Wagner},
  year = {2026},
  journal = {Human Mutation},
  doi = {10.1155/humu/8645235},
  url = {https://doi.org/10.1155/humu/8645235}
}

RIS

TY  - JOUR
TI  - Splice effect of a synonymous variant in
                    <i>AP4B1</i>
                    : multiomics approach establishes the diagnosis in two sisters with spastic paraplegia
AU  - Susann Badmann
AU  - Alice Saparov
AU  - Philip Harrer
AU  - Juliane Beuschlein
AU  - Cornelia Daumer-Haas
AU  - Elisabeth Graf
AU  - Christina Ludwig
AU  - Julia Mergner
AU  - Theresa Brunet
AU  - Maureen Jacob
AU  - Holger Prokisch
AU  - Juliane Winkelmann
AU  - Thomas Meitinger
AU  - Michael Zech
AU  - Matias Wagner
PY  - 2026
JO  - Human Mutation
DO  - 10.1155/humu/8645235
UR  - https://doi.org/10.1155/humu/8645235
ER  -

APA

Badmann, S., Saparov, A., Harrer, P., Beuschlein, J., Daumer-Haas, C., Graf, E., Ludwig, C., Mergner, J., Brunet, T., Jacob, M., Prokisch, H., Winkelmann, J., Meitinger, T., Zech, M., & Wagner, M. (2026). Splice effect of a synonymous variant in <i>AP4B1</i> : multiomics approach establishes the diagnosis in two sisters with spastic paraplegia. Human Mutation. https://doi.org/10.1155/humu/8645235

Source records

crossref · retrieved 2026-09-25T20:02:10.852Z