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Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis

Zimeng Ye,Sufang Lin,Xia Zhao,Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu,Jing Duan,Yi Yao,Lin Li,Li Chen,Dezhi Cao,Zhanqi Hu, Victor W. Zhang,Samuel F. Berkovic,Ingrid E. Scheffer,Jianxiang Liao,Michael S. Hildebrand

PEDIATRIC NEUROLOGY（2024）

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Exome sequencing,Variant interpretation,Mosaicism,Recurrence risk,Tuberous sclerosis complex
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