Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G621S
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KCNQ1

NM_000218.3:p.G621S

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

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Cazzato F et al.

International Journal of Legal Medicine, 2024

38849547 (PubMed )
Supplement: 414_2024_3264_MOESM1_ESM.xlsx › Foglio1

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Martinez-Barrios E et al.

International Journal of Legal Medicine, 2023

36693943 (PubMed )
Supplement: 414_2023_2951_MOESM1_ESM.pdf

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

Campuzano O et al.

Forensic Science International, 2014

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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."