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An in vitro splicing assay reveals the pathogenicity of a n..:
Yamamura, Tomohiko
;
Nozu, Kandai
;
Miyoshi, Yuya
...
https://doi.org/10.1186/s12882-017-0774-4. , 2017
Link:
https://hdl.handle.net/20.500.12000/45877
RT Journal T1
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
UL https://suche.suub.uni-bremen.de/peid=base-ftunivryukyus:oai:u-ryukyu.repo.nii.ac.jp:02012367&Exemplar=1&LAN=DE A1 Yamamura, Tomohiko A1 Nozu, Kandai A1 Miyoshi, Yuya A1 Nakanishi, Keita A1 Fujimura, Junya A1 Horinouchi, Tomoko A1 Minamikawa, Shogo A1 Mori, Nobuo A1 Fujimaru, Rika A1 Nakanishi, Koichi A1 Ninchoji, Takeshi A1 Kaito, Hiroshi A1 Taniguchi-Ikeda, Mariko A1 Morioka, Ichiro A1 Matsuo, Masafumi A1 Iijima, Kazumoto PB Springer Nature YR 2017 K1 Autosomal recessive distal renal tubular acidosis K1 ATP6V0A4 K1 Minigene K1 Splicing assay JF https://doi.org/10.1186/s12882-017-0774-4 LK http://dx.doi.org/https://hdl.handle.net/20.500.12000/45877 DO https://hdl.handle.net/20.500.12000/45877 SF ELIB - SuUB Bremen
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