A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.
Law CY, Lui DTW, Lau E, Woo CSL, Chang JYC, Leung EKH, Lee ACH, Lee CH, Woo YC, Chow WS, Lam KSL, Tan KCB, Ling TK, Lam CW.
Law CY, et al. Among authors: tan kcb.
Clin Chim Acta. 2025 Jan 1;564:119924. doi: 10.1016/j.cca.2024.119924. Epub 2024 Aug 15.
Clin Chim Acta. 2025.
PMID: 39153654