Open access
Sep 2026
Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.
This case report supports the relevance of facial analysis and comprehensive variant validation strategies, particularly for deep intronic variants with ambiguous in silico splicing predictions, particularly for deep intronic variants with ambiguous in silico splicing predictions.
Z. Kowalzyk, J. Porrmann, P. Au et al.
· Journal of Human Genetics · 0 citations