Varaico: Literature-Extracted Genetic Variants

Gene:KCNB2
Variant:p.T381A
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KCNB2

NM_004770.3:p.T381A

Associated Papers

The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances.

Mohamed ZA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat S et al.

American Journal of Human Genetics, 2024

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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."