Varaico: Literature-Extracted Genetic Variants

Gene:PDIA2
Variant:p.R473Q
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PDIA2

NM_006849.4:p.R473Q

Associated Papers

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Sticchi E et al.

Diagnostics (basel, Switzerland), 2025

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

Hilbers FS et al.

International Journal of Cancer, 2020

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious
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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."