Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G350W
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KCNQ1

NM_000218.3:p.G350W

Associated Papers

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 › S4

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

30715372 (PubMed )
Supplement: ddz032_supp.zip › HMG-2018-D-01045_Hedberg-Oldfors_Supplemental_data.docx

Role of the S6 C-terminus in KCNQ1 channel gating.

Boulet IR et al.

The Journal of Physiology, 2007

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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."