Varaico: Literature-Extracted Genetic Variants

Gene:TRAF3IP2
Variant:p.R187*
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TRAF3IP2

NM_147686.4:p.R187*

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.

Shafer S et al.

The Journal of Allergy and Clinical Immunology, 2021

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.

Birnbaum RY et al.

Plos Genetics, 2014

25340400 (PubMed )
Supplement: pgen.1004592.s009.xlsx › TRAF3IP2_exon_2
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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."