A Novel Synonymous Variant in the NF1 Gene Disrupting Splicing Contributes to Neurofibromatosis Pathogenesis

Tao Lin, Zheyan Chen, Biwen Dong, Haojie Pan,Hai Wang, Xianjue Zheng,Kaixin Chen, Yanan Lai, Chenhui Zhang, Ye Dong, Zitong Xu, Menmen Lin, Xiujie Xi, Shuqi Xia, Yimin Wang, Wenhan Wang, Xiaoqing Li,Congcong Sun, Yanjun Hu, Fang Xu,Jianqiong Zheng,Fan Jin,Hongping Zhang,Jiayong Zheng

Frontiers in genetics（2025）

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关键词

neurofibromatosis type 1,NF1,synonymous variation,splicing variant,whole-exome sequencing

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