Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I274_S277delFs
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KCNQ1

NM_000218.3:p.I274_S277delFs

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

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

Al-Hassnan ZN et al.

Heart Rhythm, 2017

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Al-Aama JY et al.

Clinical Genetics, 2015

De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.

Al-Aama JY et al.

Clinical Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."