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Updated: Jun 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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详细分析ITPR1误解变体指南诊断和治疗设计

Jussi Pekka Tolonen1,2, Ricardo Parolin Schnekenberg1,3, Simon McGowan4

  • 1Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Movement disorders : official journal of the Movement Disorder Society
|November 15, 2023
PubMed
概括

这项研究确定了ITPR1基因中的新病例和变异,扩大了对29型脊髓脑动症 (SCA29) 和吉尔斯皮综合征 (GLSP) 现型的理解. 小脑缩是常见的,但与症状进展无关.

关键词:
吉尔斯皮综合征是什么?吉尔斯皮综合征是什么?IP3R1 IP3R1 是一个IP3R1在ITPR1中使用ITPR1.小脑小脑是什么意思这是下一代测序.29型脊脑小骨动脉动脉不良症.

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