Trio‐WES and Functional Validation Reveals a Novel Splice Site Variant of SLC26A3 in a Case with Congenital Chloride Diarrhea and a Systematic Review of SLC26A3 Mutations in China

Ruixue Zhang, Hongping Li,Rong Qiang,XinRu Gao, Jinzhen Guo, Guoqiang Chen, Qin Nan, Limei Zhong, Lin Wang

Molecular Genetics and Genomics（2025）

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Congenital chloride diarrhea,Prenatal diagnosis,Solute Carrier Family 26 Member 3,Mini-gene splicing assay

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