Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders-Reference-Cited by-同舟云学术

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders

Published:2024-01 Issue: Volume:99 Page:104928
ISSN:2352-3964
Container-title:eBioMedicine
language:en
Short-container-title:eBioMedicine

Author:

Li Kuokuo,Xiao Jifang,Ling Zhengbao,Luo Tengfei,Xiong Jingyu,Chen Qian,Dong Lijie,Wang Yijing,Wang Xiaomeng,Jiang Zhaowei,Xia Lu,Yu Zhen,Hua Rong,Guo Rui,Tang Dongdong,Lv Mingrong,Lian Aojie,Li Bin,Zhao GuiHu,He Xiaojin,Xia Kun,Cao Yunxia,Li Jinchen^ORCID

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

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1. A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability;Scientific Reports;2024-07-09

2. Identification and characterization of a novel intronic splicing mutation in CSF1R‐related leukoencephalopathy;CNS Neuroscience & Therapeutics;2024-06