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Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease by Yi-Dan Liu, Dan-Dan Tan, Dan-Yu Song, Yan-Bin Fan, Xiao-Na Fu, Lin Ge, Wei Wei, Hui Xiong
Published 2023-06-01
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Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients by Xiao-Yu Chen, Dan-Yu Song, Yan-Bin Fan, Dan-Dan Tan, Xing-Zhi Chang, Jiang-Xi Xiao, Tatsushi Toda, Hui Xiong, Peng Lyu.
Published 2021-06-01
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Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy by Xiao-Yu Chen, Dan-Yu Song, Li Jiang, Dan-Dan Tan, Yi-Dan Liu, Jie-Yu Liu, Xing-Zhi Chang, Guo-Gang Xing, Tatsushi Toda, Hui Xiong
Published 2021-08-01
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