Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q615*
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KCNQ1

NM_000218.3:p.Q615*

Associated Papers

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Zhang Y et al.

Frontiers in Pharmacology, 2022

36339618 (PubMed )
Supplement: DataSheet1.DOCX

Reclassification of genetic variants in children with long QT syndrome.

Westphal DS et al.

Molecular Genetics & Genomic Medicine, 2020

32383558 (PubMed )
Supplement: MGG3-8-e1300-s001.xlsx › Supplement_Tabelle

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

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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."