Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.Q78_Q79Splc
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CHRNA1

NM_000079.4:p.Q78_Q79Splc

Associated Papers

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.

Masuda A et al.

Human Molecular Genetics, 2008

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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."