Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

This study identifies and confirms a novel pathogenic intronic variant of <i>DNAAF6</i> in a Chinese PCD family, expanding the <i>DNAAF6</i> mutational spectrum. It also emphasizes the critical role of minigene-based functional validation in interpreting variants of uncertain significance (VUS).