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Publikováno v: In Genetics in Medicine Open 2024 2

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High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants

Autor: Ng, Chai-Ann, Perry, Matthew D., Liang, Whitney, Smith, Nicola J., Foo, Brian, Shrier, Alvin, Lukacs, Gergely L., Hill, Adam P., Vandenberg, Jamie I.

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Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations.

Autor: Li, Jinyuan Vero¹, Ng, Chai-Ann^1,2, Cheng, Delfine^1,2, Zhou, Zijing¹, Yao, Mingxi³, Guo, Yang^1,2, Yu, Ze-Yan^1,2, Ramaswamy, Yogambha⁴, Ju, Lining Arnold⁴, Kuchel, Philip W.⁵, Feneley, Michael P.^1,2,6, Fatkin, Diane^1,2, Cox, Charles D.^1,2 c.cox@victorchang.edu.au

Publikováno v: Communications Biology. 9/6/2021, Vol. 4 Issue 1, p1-17. 17p.