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An in vitro splicing assay reveals the pathogenicity of a n..:
Yamamura, Tomohiko
;
Nozu, Kandai
;
Miyoshi, Yuya
...
BMC Nephrology. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/s12882-017-0774-4
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=cr-10.1186_s12882-017-0774-4&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 Mariko, Taniguchi-Ikeda A1 Morioka, Ichiro A1 Matsuo, Masafumi A1 Iijima, Kazumoto PB Springer Science and Business Media LLC YR 2017 SN 1471-2369 JF BMC Nephrology VO 18 IS 1 LK http://dx.doi.org/https://doi.org/10.1186/s12882-017-0774-4 DO https://doi.org/10.1186/s12882-017-0774-4 SF ELIB - SuUB Bremen
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