When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification
Jin‐Huan Lin, Hao Wu, Xin‐Ying Tang, Emmanuelle Masson, Peter D. Stenson, Andrew D. Phillips, D.N. Cooper, Claude Férec, Zhuan Liao, Wen‐Bin Zou, Jian-Min Chen
The paper examines GT>GC 5' splice-site variants, showing they can retain wild-type transcript and challenge variant classification.
Human Genetics and Genomics Advances · Apr 2, 2026Peer-reviewedGenetics