Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.W248delins
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KCNQ1

NM_000218.3:p.W248delins

Associated Papers

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

Homma K

Biomedicines, 2022

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Matsuda S et al.

Human Genome Variation, 2020

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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."