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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 T, Nozu K, Miyoshi Y, Nakanishi K, Fujimura J, Horinouchi T, Minamikawa S, Mori N, Fujimaru R, Nakanishi K, Ninchoji T, Kaito H, Mariko TI, Morioka I, Matsuo M, Iijima K. Yamamura T, et al. Among authors: mariko ti. BMC Nephrol. 2017 Dec 4;18(1):353. doi: 10.1186/s12882-017-0774-4. BMC Nephrol. 2017. PMID: 29202719 Free PMC article.
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
Endo H, Uenaka T, Satake W, Suzuki Y, Tachibana H, Chihara N, Ueda T, Sekiguchi K, Mariko TI, Kowa H, Kanda F, Toda T. Endo H, et al. Among authors: mariko ti. Neurol Clin Neurosci. 2017 Jul;5(4):131-133. doi: 10.1111/ncn3.12132. Epub 2017 Jun 29. Neurol Clin Neurosci. 2017. PMID: 28932395 Free PMC article.