Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3

ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants r...

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Main Authors: Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DNAAF3
minigene assay
molecular diagnosis
primary ciliary dyskinesia (PCD)
variants of uncertain significance (VUS)
Online Access:https://doi.org/10.1002/mgg3.70036
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