@misc{indiciae324559642b9d, 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 K\&\#xfc;bler and A K\&\#xf6;gler and N S Lewis and A K\&\#xf6;hler and J Wagner and M Bermudez and C H\&\#xfc;bner and J Schallner and R Jauss and C Vogelberg and B Mayer and N Di Donato and E Schr\&\#xf6;ck and D Le Duc and A Jahn}, year = {2026}, doi = {10.1038/s10038-026-01511-9}, url = {https://pubmed.ncbi.nlm.nih.gov/42697962/}, note = {Source identifier: 42697962} }