Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.V279F
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CHRNE

NM_000080.4:p.V279F

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

Ohno K et al.

International Journal of Molecular Sciences, 2023

Congenital myasthenic syndrome in China: genetic and myopathological characterization.

Zhao Y et al.

Annals of Clinical and Translational Neurology, 2021

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