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A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

Toshitaka Kawarai,Hiroki Yamazaki, Kei Yamakami, Ai Tsukamoto-Miyashiro, Mizuki Kodama,Roberto Rumore,Carlo Caltagirone, Ichizo Nishino,Antonio Orlacchio

JOURNAL OF THE NEUROLOGICAL SCIENCES（2020）

引用 8|浏览37
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关键词
AIFM1,Ataxic sensory neuronopathy,Hearing impairment,Novel missense variation,Broad clinical and histopathological variations
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