Publications:

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Orphanet Journal Of Rare Diseases

Chen, Jia J; Li, Hong H; Guo, Sicheng S; Yang, Zhe Z; Sun, Shaoping S; Zeng, JunJie J; Gou, Hongjuan H; Chen, Yechang Y; Wang, Feng F; Lin, Yanping Y; Huang, Kun K; Yue, Hong H; Ma, Yuting Y; Lin, Yubi Y

Publication Date: 2022-10-27

Variant appearance in text: KCNH2: M133V

PubMed Link: 36303204

Variant Present in the following documents:

• Main text

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Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.

Journal Of Molecular And Cellular Cardiology

Stump, Matthew R MR; Gong, Qiuming Q; Packer, Jonathan D JD; Zhou, Zhengfeng Z

Publication Date: 2012-11

Variant appearance in text: LQT2: M133V

PubMed Link: 22964610

Variant Present in the following documents:

• Main text

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