Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.K170insFs
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CANX

NM_001746.4:p.K170insFs

Associated Papers

Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

Ealing J et al.

Human Molecular Genetics, 2002

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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."