The Molecular Biology Society of Japan

[1P-0684] A novel nonsense variant in FGF14 encoding fibroblast growth factor 14 associated with spinocerebellar ataxia 27.

〇Kengo Kosaka1, Shiroh Miura2, Tomofumi Shimojo1, Takuya Morikawa1, Yusuke Uchiyama3, Takayuki Taniwaki2, Hiroki Shibata1 (1.Division of Genomics, MIB, Univ of Kyushu, 2.Division of Neurology, Dept of Medicine, Univ of Kurume, 3.Dept of Radiology, Univ of Kurume)

exome sequencing, spinocerebellar ataxia, fibroblast growth factor 14

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