Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.Y384delFs
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KCNB1

NM_004975.4:p.Y384delFs

Associated Papers

Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant.

Lu JM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."