Varaico: Literature-Extracted Genetic Variants

Gene:CHRND
Variant:p.L58H
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CHRND

NM_000751.3:p.L58H

Associated Papers

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

Shen XM et al.

The Journal of Clinical Investigation, 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."