Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID2
Variant:p.T1168S
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ITPRID2

NM_001130445.3:p.T1168S

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM3_ESM.xlsx › 270

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor.

Londin ER et al.

Bmc Genomics, 2011

21943378 (PubMed )
Supplement: 1471-2164-12-464-S4.PDF
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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."