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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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Biallelic Loss-Of-Function Nrros Variants Impairing Active Tgf-Ss 1 Delivery Cause A Severe Infantile Onset Neurodegenerative Condition With Intracranial Calcification

X Dong,NB Tan,KB Howell,S Barresi, L Freeman,D Vecchio,M Piccione,F Clementina Radio,D Calame,S Zong,S Eggers,IE Scheffer,TY Tan, NJ Van Bergen,M Tartaglia,J Christodoulou,SM White

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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neurodegenerative condition,severe infantile onset,loss-of-function
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