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Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.
Inoue S, Kondo A, Inoki Y, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Suzuki R, Okada E, Sakakibara N, Horinouchi T, Nozu K. Inoue S, et al. Among authors: suzuki r. Clin Exp Nephrol. 2024 Nov;28(11):1075-1081. doi: 10.1007/s10157-024-02510-w. Epub 2024 Jun 14. Clin Exp Nephrol. 2024. PMID: 38877226 Free PMC article.
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Among authors: suzuki r. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
3,835 results