Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P631delFs
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KCNQ1

NM_000218.3:p.P631delFs

Associated Papers

iPSC-Derived Cardiomyocytes as a Disease Model to Understand the Biology of Congenital Heart Defects.

Pushpan CK et al.

Cells, 2024

Human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) for modeling cardiac arrhythmias: strengths, challenges and potential solutions.

Joshi J et al.

Frontiers in Physiology, 2024

39328831 (PubMed )
Supplement: Table1.pdf

Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.

Liu Z et al.

Seminars in Perinatology, 2023

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

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

The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

Pourrier M et al.

International Journal of Molecular Sciences, 2020

Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Jalkh N et al.

Frontiers in Genetics, 2020

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Garg P et al.

Circulation Research, 2018

Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes.

Kuusela J et al.

Springerplus, 2016

iPCS Cell Modeling of Inherited Cardiac Arrhythmias.

Shinnawi R et al.

Current Treatment Options in Cardiovascular Medicine, 2014

New iPSC for old long QT syndrome modeling: putting the evidence into perspective.

Li G et al.

Experimental Biology and Medicine (maywood, N.j.), 2014

Modeling long QT syndromes using induced pluripotent stem cells: current progress and future challenges.

Friedrichs S et al.

Trends in Cardiovascular Medicine, 2013

Induced pluripotent stem cell-derived cardiomyocytes: a versatile tool for arrhythmia research.

Sinnecker D et al.

Circulation Research, 2013

Novel insights into disease modeling using induced pluripotent stem cells.

Egashira T et al.

Biological & Pharmaceutical Bulletin, 2013

Disease characterization using LQTS-specific induced pluripotent stem cells.

Egashira T et al.

Cardiovascular Research, 2012

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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."