Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.G290V
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KCNQ2

NM_172107.4:p.G290V

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

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.

Stojanovic JR et al.

Journal of Child Neurology, 2020

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