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Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G).
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2023-10-16 , DOI: 10.3343/alm.2023.0163 Jiyeon Kim 1 , Joonsang Yu 1 , Seunghoo Lee 1 , Sollip Kim 1 , In-Seob Lee 2 , Woochang Lee 1 , Sail Chun 1
中文翻译:
基于逆转录 PCR 的桑格测序证实了新型 GEN1 内含子变体 (c.1408+4A>G) 的外显子跳跃效应。
更新日期:2023-10-16
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2023-10-16 , DOI: 10.3343/alm.2023.0163 Jiyeon Kim 1 , Joonsang Yu 1 , Seunghoo Lee 1 , Sollip Kim 1 , In-Seob Lee 2 , Woochang Lee 1 , Sail Chun 1
Affiliation
中文翻译:
![](https://scdn.x-mol.com/jcss/images/paperTranslation.png)
基于逆转录 PCR 的桑格测序证实了新型 GEN1 内含子变体 (c.1408+4A>G) 的外显子跳跃效应。