Varaico: Literature-Extracted Genetic Variants

Gene:PDIA2
Variant:p.A455D
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PDIA2

NM_006849.4:p.A455D

Associated Papers

Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.

Esapa CT et al.

Human Molecular Genetics, 2005

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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."