Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.R393H
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CHRNB2

NM_000748.3:p.R393H

Associated Papers

Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.

Atli EI et al.

Internal Medicine Journal, 2022

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L et al.

Human Mutation, 2003

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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."