Varaico: Literature-Extracted Genetic Variants

Gene:CHRND
Variant:p.L42P
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CHRND

NM_000751.3:p.L42P

Associated Papers

Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.

Durmus H et al.

Acta Neurologica Belgica, 2021

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

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS et al.

Brain : a Journal of Neurology, 2006

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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."