Reverse Transcription-PCR-based Sanger Sequencing- confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

Jiyeon Kim,Joonsang Yu,Seunghoo Lee,Sollip Kim,In-Seob Lee,Woochang Lee,Sail Chun

Annals of laboratory medicine（2024）

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摘要

Jiyeon Kim, M.D., Joonsang Yu, M.D., Seunghoo Lee, M.D., Ph.D., Sollip Kim, M.D., Ph.D., In-Seob Lee, M.D., Ph.D., Woochang Lee, M.D., Ph.D., and Sail Chun, M.D., Ph.D.. Ann Lab Med -0001;0:. https://doi.org/10.3343/alm.2023.0163

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关键词

intronic variant,transcription-pcr-based,sequencing-confirmed,exon-skipping

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