Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R452delFs
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KCNQ1

NM_000218.3:p.R452delFs

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

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

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