Varaico: Literature-Extracted Genetic Variants

Gene:PDIA3
Variant:p.C57Y
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PDIA3

NM_005313.5:p.C57Y

Associated Papers

Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.

Bilches Medinas D et al.

The Embo Journal, 2022

The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment.

Sun H et al.

Frontiers in Neuroscience, 2022

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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."