Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.T217I
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KCNQ2

NM_172107.4:p.T217I

Associated Papers

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.

Jia A et al.

Pharmacogenomics and Personalized Medicine, 2023

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.

Xiao T et al.

Frontiers in Molecular Neuroscience, 2022

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.

Xu Y et al.

Bmc Pediatrics, 2021

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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."