Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.C331Y
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KCNQ1

NM_000218.3:p.C331Y

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Lee SY et al.

Experimental & Molecular Medicine, 2021

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