Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S333delFs
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KCNQ1

NM_000218.3:p.S333delFs

Associated Papers

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Pan X et al.

Channels (austin, Tex.), 2025

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Homma K

Biomedicines, 2022

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

Al-Hassnan ZN et al.

Heart Rhythm, 2017

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