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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 · Vol. 300, Issue 1 · 2025

Abstract

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Bibliographic Information

JournalMolecular Genetics and Genomics
PublisherSpringer
Publication Date2025-12-01
Publication Year2025
Volume300
Issue1
Document TypeJournal Article
Print ISSN1617-4615
eISSN1617-4623
DOI10.1007/s00438-025-02233-x

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NARA Access Coverage1908-01-01~Current
Journal Homepagehttps://www.springer.com/journal/438
Publisher PageOpen Publisher Page
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