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Items for Author "Taniguchi-Ikeda, Mariko"
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| An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis | Yamamura, 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, Kazumoto | 4-Dec-2017 |
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