Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G460D
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KCNQ1

NM_000218.3:p.G460D

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

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Kotta MC et al.

Journal of the American Heart Association, 2023

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju H et al.

Bmc Cardiovascular Disorders, 2019

31337358 (PubMed )
Supplement: 12872_2019_1154_MOESM1_ESM.pdf

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J et al.

Plos One, 2017

28767663 (PubMed )
Supplement: pone.0181840.s008.xlsx › Feuil1
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