Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.E236*
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TNFRSF13B

NM_012452.3:p.E236*

Associated Papers

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

Abolhassani H et al.

Journal of Human Immunity, 2025

A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms.

Li J et al.

International Journal of Laboratory Hematology, 2025

Genetics and clinical phenotypes in common variable immunodeficiency.

Cunningham-Rundles C et al.

Frontiers in Genetics, 2023

TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece.

Kakkas I et al.

Medicina (kaunas, Lithuania), 2021

Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.

Waller RG et al.

Human Molecular Genetics, 2021

33751038 (PubMed )
Supplement: hmg-2020-am-00763_waller_stables_ddab066.xlsx › STable_II

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA et al.

Frontiers in Pediatrics, 2015

Combined immune deficiency in a patient with a novel NFKB2 mutation.

Lindsley AW et al.

Journal of Clinical Immunology, 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."