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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。Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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ORPHANET JOURNAL OF RARE DISEASES (2011)
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
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Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
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