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Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Z. Kowalzyk J. Porrmann P. Au S. Choufani R. Weksberg K. Hackmann A. Kübler A. Kögler N. Lewis A. Köhler J. Wagner M. Bermudez C. Hübner J. Schallner R. Jauss C. Vogelberg B. Mayer N. Di Donato E. Schröck D. Le Duc A. Jahn
Sep 2026 · Journal of Human Genetics · 0 citations · 13 references
Medicine

TL;DR

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.

DOI PubMed Semantic Scholar
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