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RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G).
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2022-05-01 , DOI: 10.3343/alm.2022.42.3.380
Rae Na 1 , Jinyoung Hong 1 , Hyunjung Gu 1 , Woochang Lee 1 , Jae-Lyun Lee 2 , Sail Chun 1 , Won-Ki Min 1
Affiliation  



中文翻译:

RNA 测序为新型 CHEK2 剪接变体 (C.1009-7T>G) 的致病性提供了证据。

更新日期:2021-12-16
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