Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing

Binyu Ma,Zhidan Hong, Li Zhang,Ling Ma,Jie Duan, Ying Gao, Mei Wang,Yuanzhen Zhang

Reproductive Sciences（2024）

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Whole exome sequencing (WES),Preimplantation genetic testing (PGT),POMT1 variants,Functional analysis,Variants of unknown significance (VUS),α-dystroglycanopathy

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