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TitleAuthors Date of Issue
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosisYamamura, Tomohiko; Nozu, Kandai; Miyoshi, Yuya; Nakanishi, Keita; Fujimura, Junya; Horinouchi, Tomoko; Minamikawa, Shogo; Mori, Nobuo; Fujimaru, Rika; Nakanishi, Koichi; Ninchoji, Takeshi; Kaito, Hiroshi; Taniguchi-Ikeda, Mariko; Morioka, Ichiro; Matsuo, Masafumi; Iijima, Kazumoto4-Dec-2017

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