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注意:仅列出部分参考文献,下载原文获取全部文献信息。De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
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Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
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AMERICAN JOURNAL OF HUMAN GENETICS (2016)
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JOURNAL OF NEUROSCIENCE (2013)
Aniridia
Melanie Hingorani et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome
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CORTEX (2008)
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Claudio Graziano et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
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Daniela Varela Luquetti et al.
OPHTHALMIC GENETICS (2007)
Ocular findings in Gillespie-like syndrome: Association with a new PAX6 mutation
Benjamin H. Ticho et al.
OPHTHALMIC GENETICS (2006)