Article

A novel variant of KCNQ1 gene and pathogenicity prediction in a family with long QT syndrome type 1

2023-09-06

Abstract excerpt

A novel heterozygous missense variant of KCNQ1 was identified in a family exhibiting LQTS with complete penetrance and its pathogenicity was predicted through multiple prediction software programs and 3D model analysis. The pathogenicity of the variant was predicted for its effect on a 3D model of KCNQ1, and in-depth functional analysis was performed for mechanistic speculation. We demonstrated that this variant,...

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Literature Corpus work: ff59f366-e903-5a80-ad89-41cdfc11f9f6
DOI: 10.21203/rs.3.rs-3176038/v1

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