Varaico: Literature-Extracted Genetic Variants

Gene:RNF31
Variant:p.L156H
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RNF31

NM_017999.5:p.L156H

Associated Papers

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Vorsteveld EE et al.

Clinical Immunology (orlando, Fla.), 2024

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

31203817 (PubMed )
Supplement: 13073_2019_649_MOESM3_ESM.xlsx › Sheet1
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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."