Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.V413I
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KCNB1

NM_004975.4:p.V413I

Associated Papers

Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.

Shin HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2024

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O et al.

International Journal of Molecular Sciences, 2022

35887114 (PubMed )
Supplement: ijms-23-07764-s001.zip › Supplementary_Matherial_S2.pdf

[Variability of the clinical expression of KCNB1 encephalopathy].

Púa-Torrejón RC et al.

Revista De Neurologia, 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."