Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R228M
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KCNQ1

NM_000218.3:p.R228M

Associated Papers

Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.

Chang-Gonzalez AC et al.

Biorxiv : the Preprint Server for Biology, 2025

Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.

Leung HT et al.

Pediatric Cardiology, 2024

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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."