Varaico: Literature-Extracted Genetic Variants

Gene:PSMD2
Variant:p.Q43R
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PSMD2

NM_002808.5:p.Q43R

Associated Papers

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.

Jeng CJ et al.

Frontiers in Neurology, 2020

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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."