Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.A310T
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CANX

NM_001746.4:p.A310T

Associated Papers

A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex.

Forrester A et al.

The Embo Journal, 2019

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

Fernández-Marmiesse A et al.

Human Mutation, 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."