Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I556N
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KCNQ1

NM_000218.3:p.I556N

Associated Papers

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

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Genetic disorders of neuromuscular ion channels.

Kleopa KA et al.

Muscle & Nerve, 2002

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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."