Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.Q228*
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KCNB1

NM_004975.4:p.Q228*

Associated Papers

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C et al.

Human Mutation, 2020

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Hoelz H et al.

Clinical Eeg and Neuroscience, 2020

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

de Kovel CGF et al.

Jama Neurology, 2017

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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."