Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.N115Splc
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CHRNE

NM_000080.4:p.N115Splc

Associated Papers

Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.

Sieb JP et al.

Human Genetics, 2000

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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."