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优先考虑神经发育障碍中潜在的非典型剪接变体

发布时间:2024-01-04 信息来源:出生人口健康教育部重点实验室 作者:rkjkys 浏览:0
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Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders

优先考虑神经发育障碍中潜在的非典型剪接变体

 

Authors: Li K, Xiao J, Ling Z, Luo T, Xiong J, Chen Q, Dong L, Wang Y, Wang X, Jiang Z, Xia L, Yu Z, Hua R, Guo R, Tang D, Lv M, Lian A, Li B, Zhao G, He X, Xia K, Cao Y, Li J. 

Source:EBioMedicine. 2023 Dec 18;99:104928.

Doi: 10.1016/j.ebiom.2023.104928

 

Background

Genomic variants outside of the canonical splicing site (±2) may generate abnormal mRNA splicing, which are defined as non-canonical splicing variants (NCSVs). However, the clinical interpretation of NCSVs in neurodevelopmental disorders (NDDs) is largely unknown.

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