Article

When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classification

2025-10-31

Abstract excerpt

Variants with intermediate functional effects—those that neither eliminate nor fully maintain normal gene function—represent an underrecognized source of genetic complexity and constitute a grey zone that challenges variant classification. Here, we address this issue using GT>GC (+2T>C) 5′ splice-site variants as a tractable model, as approximately 15% of such substitutions retain variable amounts of wild-type (WT...

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Literature Corpus work: 80809dd6-43f8-5da5-9a93-c7f226d34bdf
DOI: 10.1101/2025.10.30.685113

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