Article

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

2022-02-20

Abstract excerpt

We report a novel heterozygous missense variant of KCNQ1 in a family exhibiting LQTS with complete penetrance and predict its pathogenicity through multiple prediction software programs and 3D model analysis. Whole-exome sequencing (WES) was performed in a family with symptoms of LQTS. The pathogenicity of the identified variant was predicted for its effect on a 3D model of KCNQ1, and in-depth functional analysis...

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Literature Corpus work: 2d25e0e6-b9db-5e99-8dd4-e4e12281ea07
DOI: 10.22541/au.164534414.48388076/v1

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