Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.R72C
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TNFRSF13B

NM_012452.3:p.R72C

Associated Papers

Re-evaluation of the contribution of TNFRSF13B variants to antibody deficiency.

Abolhassani H et al.

Journal of Human Immunity, 2025

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

34573280 (PubMed )
Supplement: genes-12-01299-s001.zip › genes-1330791-suppl › Grossi_et_al_GENES_1330791_Supplemantary_Information_Table_S4_R1.xlsx › Foglio1

A 2020 update on the use of genetic testing for patients with primary immunodeficiency.

Chinn IK et al.

Expert Review of Clinical Immunology, 2020

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Kashimada A et al.

Brain & Development, 2019

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S6
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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."