Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.S223P
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KCNQ2

NM_172107.4:p.S223P

Associated Papers

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

Saez-Matia A et al.

International Journal of Molecular Sciences, 2024

38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_3_KCNQ2_All_Predictions.xlsx › CatBoost

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee IC et al.

Cells, 2022

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE et al.

Annals of Neurology, 2017

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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."