Ultra‐low level somatic mutations and structural variations in focal cortical dysplasia type II

Ja Hye Kim,Ji‐Hyung Park,Junehawk Lee,Jung Woo Park,Hyun Jung Kim,Won Seok Chang,Dong‐Seok Kim,Young Seok Ju,Eleonora Aronica,Jeong Ho Lee

Annals of Neurology（2023）

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摘要

Our method facilitates the detection of ultra-low level somatic mutations, in specifically p-S6 cells, and germline structural variations and increases the genetic diagnostic rate up to ~80% for the entire FCDII cohort. ANN NEUROL 2023.

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