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 Sep 4
- Container
- Journal of human genetics
- Publisher
- Not recorded
- 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 = {Kowalzyk Z and Porrmann J and Au PYB and Choufani S and Weksberg R and Hackmann K and Kübler A and Kögler A and Lewis NS and Köhler A and Wagner J and Bermudez M and Hübner C and Schallner J and Jauss R and Vogelberg C and Mayer B and Di Donato N and Schröck E and Le Duc D and Jahn A},
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 - Kowalzyk Z AU - Porrmann J AU - Au PYB AU - Choufani S AU - Weksberg R AU - Hackmann K AU - Kübler A AU - Kögler A AU - Lewis NS AU - Köhler A AU - Wagner J AU - Bermudez M AU - Hübner C AU - Schallner J AU - Jauss R AU - Vogelberg C AU - Mayer B AU - Di Donato N AU - Schröck E AU - Le Duc D AU - Jahn A 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
Z, K., J, P., PYB, A., S, C., R, W., K, H., A, K., A, K., NS, L., A, K., J, W., M, B., C, H., J, S., R, J., C, V., B, M., N, D. D., E, S., D, L. D., & A, J. (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
- pubmed · retrieved 2026-09-25T20:08:36.981Z