A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
TMEM43 无义变异导致连接蛋白相关功能紊乱，并引发常染色体显性遗传性听觉神经病谱系障碍。
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.2019681118
Jang, Minwoo Wendy; Oh, Doo-Yi; Yi, Eunyoung; Liu, Xuezhong; Ling, Jie; Kim, Nayoung; Sharma, Kushal; Kim, Tai Young; Lee, Seungmin; Kim, Ah-Reum; Kim, Min Young; Kim, Min-A; Lee, Mingyu; Han, Jin-Hee; Han, Jae Joon; Park, Hye-Rim; Kim, Bong Jik; Lee, Sang-Yeon; Woo, Dong Ho; Oh, Jayoung; Oh, Soo-Jin; Du, Tingting; Koo, Ja-Won; Oh, Seung-Ha; Shin, Hyun-Woo; Seong, Moon-Woo; Lee, Kyu-Yup; Kim, Un-Kyung; Shin, Jung Bum; Sang, Shushan; Cai, Xinzhang; Mei, Lingyun; He, Chufeng; Blanton, Susan H; Chen, Zheng-Yi; Chen, Hongsheng; Liu, Xianlin; Nourbakhsh, Aida; Huang, Zaohua; Kang, Kwon-Woo; Park, Woong-Yang; Feng, Yong; Lee, C Justin; Choi, Byung Yoon
