Varaico: Literature-Extracted Genetic Variants

Gene:EMP2
Variant:p.Q62*
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EMP2

NM_001424.6:p.Q62*

Associated Papers

Prediction of steroid resistance and steroid dependence in nephrotic syndrome children.

Zaorska K et al.

Journal of Translational Medicine, 2021

33785019 (PubMed )
Supplement: 12967_2021_2790_MOESM1_ESM.pdf

Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.

Wan X et al.

Journal of the American Society of Nephrology : Jasn, 2016

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

Gee HY et al.

American Journal of Human Genetics, 2014

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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."