Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q544_S546Fs
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KCNQ1

NM_000218.3:p.Q544_S546Fs

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

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness.

Oertli A et al.

International Journal of Molecular Sciences, 2021

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