Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome
- DOI
- 10.1038/s10038-026-01511-9
- Published
- 2026-09-04
- Container
- Journal of Human Genetics
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s10038-026-01511-9,
title = {Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome},
author = {Z. Kowalzyk and J. Porrmann and P.Y.B. Au and S. Choufani and R. Weksberg and K. Hackmann and A. Kübler and A. Kögler and N. S. Lewis and A. Köhler and J. Wagner and M. Bermudez and C. Hübner and J. Schallner and R. Jauss and C. Vogelberg and B. Mayer and N. Di Donato and E. Schröck and D. Le Duc and A. Jahn},
year = {2026},
journal = {Journal of Human Genetics},
doi = {10.1038/s10038-026-01511-9},
url = {https://doi.org/10.1038/s10038-026-01511-9}
}RIS
TY - JOUR TI - Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome AU - Z. Kowalzyk AU - J. Porrmann AU - P.Y.B. Au AU - S. Choufani AU - R. Weksberg AU - K. Hackmann AU - A. Kübler AU - A. Kögler AU - N. S. Lewis AU - A. Köhler AU - J. Wagner AU - M. Bermudez AU - C. Hübner AU - J. Schallner AU - R. Jauss AU - C. Vogelberg AU - B. Mayer AU - N. Di Donato AU - E. Schröck AU - D. Le Duc AU - A. Jahn PY - 2026 JO - Journal of Human Genetics DO - 10.1038/s10038-026-01511-9 UR - https://doi.org/10.1038/s10038-026-01511-9 ER -
APA
Kowalzyk, Z., Porrmann, J., Au, P., Choufani, S., Weksberg, R., Hackmann, K., Kübler, A., Kögler, A., Lewis, N. S., Köhler, A., Wagner, J., Bermudez, M., Hübner, C., Schallner, J., Jauss, R., Vogelberg, C., Mayer, B., Donato, N. D., Schröck, E., Duc, D. L., & Jahn, A. (2026). Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome. Journal of Human Genetics. https://doi.org/10.1038/s10038-026-01511-9
Source records
- crossref · retrieved 2026-11-10T13:49:23.301Z