Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (Q24618174)

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Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
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    Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (English)
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    Hiroshi Doi
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    Kunihiro Yoshida
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    Takao Yasuda
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    Yoko Fukuda
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    Hiroshi Morita
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    Shu-ichi Ikeda
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    Rumiko Kato
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    Noriko Miyake
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    Haruya Sakai
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    Satoko Miyatake
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    Masaaki Shiina
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    Nobuyuki Nukina
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    Shigeru Koyano
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    Shoji Tsuji
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    Yoshiyuki Kuroiwa
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    Naomichi Matsumoto
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    12 August 2011
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    89
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    2
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    320-7
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