Varaico: Literature-Extracted Genetic Variants

Gene:PDIA3
Variant:p.V397M
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PDIA3

NM_005313.5:p.V397M

Associated Papers

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

Kemme L et al.

Jimd Reports, 2021

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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."