Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.A291V
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CHRNE

NM_000080.4:p.A291V

Associated Papers

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Theuriet J et al.

Brain : a Journal of Neurology, 2024

38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.

Krenn M et al.

Journal of Neurology, 2023

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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."