Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.E151_V152del1
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CHRNE

NM_000080.4:p.E151_V152del1

Associated Papers

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

Della Marina A et al.

Acta Neuropathologica Communications, 2025

Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.

Gül Mert G et al.

Acta Neurologica Belgica, 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."