Xiaomeng Shi

Identification of seven exonic variants in the <i>SLC4A1</i> , <i>ATP6V1B1</i> , and <i>ATP6V0A4</i> genes that alter RNA splicing by minigene assay

Ruixiao Zhang, Zeqing Chen, Qijing Song et al. · Human Mutation · 2021 · 45 citations · Full text

Precursor Messenger Rna, Genetics, Renal Pathology +18

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Sai Wang, Yixiu Wang, Jinchao Wang et al. · Frontiers in Genetics · 2020 · 32 citations · Full text

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3

Yue Han, Hai Cheng, Shihong Shao et al. · Endocrine · 2019 · 15 citations

Mendelian Disorder, Genetic Disorder, Medicine +7

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Qing Xin, Liu Qihua, Zhiying Liu et al. · Frontiers in Genetics · 2022 · 11 citations · Full text

Minigene splicing assays reveal new insights into exonic variants of the <i>SLC12A3</i> gene in Gitelman syndrome

Xiaomeng Shi, Hong Wang, Ruixiao Zhang et al. · Molecular Genetics & Genomic Medicine · 2023 · 11 citations · Full text