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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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P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1

M. Beck, S. Aguti,P. Ala,A. Richard-Loendt,D. Chambers,D. Scaglioni, D. Ardicli,L. Feng,R. Mein,H. Zhou,C. Sewry,A. Sarkozy,S. Torelli, F. Muntoni,R. Phadke

NEUROMUSCULAR DISORDERS（2019）

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