Article

Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterations

2026-06-24

Abstract excerpt

Evaluating the impact of genomic variation is essential for identifying underlying mechanistic causes of human diseases. The spectrum of neurodevelopmental disorders is driven by diverse genetic alterations with genes like SMARCA4 being prototypical examples. There have been significant hurdles to implementing the protein-specific and mechanism-informed variation effect predictors that are anticipated to have the...

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Literature Corpus work: 0f5ea0cb-8b05-589b-bfba-15eda4d87d8b
DOI: 10.64898/2026.06.22.733755

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