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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHRNA1

Variant:p.K145E

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CHRNA1

NM_000079.4:p.K145E

hg38:chr2:174754326 T>C

Associated Papers

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating.

Shen XM et al.

The Journal of Clinical Investigation, 2012

22728938 (PubMed )

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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."