Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.R43insFs
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CHRNE

NM_000080.4:p.R43insFs

Associated Papers

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

Chang T et al.

Bmc Neurology, 2016

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

Mihaylova V et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

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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."