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Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease by Peng Liu, Fan Zhang, Xinhui Chen, Xiaosheng Zheng, Miao Chen, Zhiru Lin, Shuqi Chen, Lebo Wang, Xinchen Wang, Nan Jin, Chenxin Ying, Fei Xie, Bo Wang, Sheng Wu, Zhidong Cen, Wei Luo
Published 2025-01-01Get full text
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Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant by Shen-Yang Lim, Tzi Shin Toh, Jia Wei Hor, Jia Lun Lim, Lei Cheng Lit, Azlina Ahmad-Annuar, Yi Wen Tay, Jia Nee Foo, Ebonne Yulin Ng, Kalai Arasu Muthusamy, Norlinah Mohamed Ibrahim, Khairul Azmi Ibrahim, Louis Chew Seng Tan, Jannah Zulkefli, Anis Nadhirah Khairul Anuar, Kirsten Black, Pawel Lis, Fei Xie, Zhidong Cen, Kai Shi Lim, Katja Lohmann, Shalini Padmanabhan, Dario R. Alessi, Wei Luo, Eng King Tan, Esther Sammler, Ai Huey Tan
Published 2025-02-01Get full text
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