Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.S195F
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KCNQ2

NM_172107.4:p.S195F

Associated Papers

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

Sunnetci-Akkoyunlu D et al.

Genes, 2025

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_1_FINAL_DATASET_KCNQ2.xlsx › Pathogenic
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