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Select item 89481621.

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Jiaxi Yu, Jingli Shan, Meng Yu, Li Di, Zhiying Xie, Wei Zhang, He Lv, Lingchao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Xueyu Guo, Yang Wang, Jianying Xi, Wenhua Zhu, Yuwei Da, Daojun Hong, Yun Yuan, Chuanzhu Yan, Zhaoxia Wang, Jianwen Deng

Am J Hum Genet. 2022 Mar 3; 109(3): 533–541. Published online 2022 Feb 10. doi: 10.1016/j.ajhg.2022.01.012

PMCID:: PMC8948162

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Select item 72735322.

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng, Jiaxi Yu, Pidong Li, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv, Zhiying Xie, LingChao Meng, Yiming Zheng, Yawen Zhao, Qiang Gang, Qingqing Wang, Jing Liu, Min Zhu, Xueyu Guo, Yanan Su, Yu Liang, Fan Liang, Tomohiro Hayashi, Meiko Hashimoto Maeda, Tatsuro Sato, Shigehisa Ura, Yasushi Oya, Masashi Ogasawara, Aritoshi Iida, Ichizo Nishino, Chang Zhou, Chuanzhu Yan, Yun Yuan, Daojun Hong, Zhaoxia Wang

Am J Hum Genet. 2020 Jun 4; 106(6): 793–804. Published online 2020 May 14. doi: 10.1016/j.ajhg.2020.04.011