Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.D88N
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KCNQ1

NM_000218.3:p.D88N

Associated Papers

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

Sveinbjornsson G et al.

Journal of the American Heart Association, 2023

37449562 (PubMed )
Supplement: JAH3-12-e029845-s001.pdf

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Streeten EA et al.

Circulation. Genomic and Precision Medicine, 2020

33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_9.

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 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."