Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G245fs
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KCNQ1

NM_000218.3:p.G245fs

Associated Papers

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

Homma K

Biomedicines, 2022

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Amirian A et al.

Iranian Biomedical Journal, 2019

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.

Amirian A et al.

Journal of Arrhythmia, 2018

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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."