Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.C232S
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CALHM3

NM_001129742.2:p.C232S

Associated Papers

Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein.

Plessa E et al.

Nature Communications, 2021

Targeting a surface cavity of alpha 1-antitrypsin to prevent conformational disease.

Parfrey H et al.

The Journal of Biological Chemistry, 2003

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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."