Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A512delFs
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KCNQ1

NM_000218.3:p.A512delFs

Associated Papers

Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients With Jervell and Lange-Nielsen Syndrome.

Vojdani S et al.

Fetal and Pediatric Pathology, 2019

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

Amirian A et al.

Iranian Journal of Basic Medical Sciences, 2018

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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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."