Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V516I
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KCNQ1

NM_000218.3:p.V516I

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

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

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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