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 et autres
Variants with intermediate functional effects-neither fully disruptive nor functionally neutral-represent an under-recognized source of genetic complexity and define a functional gray zone that complicates variant classification. Here, we address this issue using GT>GC (+2T>C) 5' splice-site variants as a tractable model, as …
cn, fr, gb (code pays fourni par la source)
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Human Genetics and Genomics Advances