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Kohei Matsubara
Kohei Matsubara
Kyoto Institute of Technology
Genetics
Allele
Biology
Mutant
Pediatrics
2
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2
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0
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Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
2021
American Journal of Medical Genetics Part A
Tomoko Uehara
Rikako Sanuki
Yurie Ogura
Atsushi Yokoyama
Takeshi Yoshida
Hiroshi Futagawa
Hiroshi Yoshihashi
Mamiko Yamada
Hisato Suzuki
Toshiki Takenouchi
Kohei Matsubara
Hiromi Hirata
Kenjiro Kosaki
Toshiyuki Takano-Shimizu
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De novo NSF mutations cause early infantile epileptic encephalopathy
2019
Annals of clinical and translational neurology
Hisato Suzuki
Takeshi Yoshida
Naoya Morisada
Tomoko Uehara
Kenjiro Kosaki
Katsunori Sato
Kohei Matsubara
Toshiyuki Takano-Shimizu
Toshiki Takenouchi
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Citations (2)
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