Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.T96M
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IRF8

NM_002163.4:p.T96M

Associated Papers

Targeted mutational profiling of Epstein Barr virus-positive mucocutaneous ulcer: Implications for differential diagnosis with EBV-positive diffuse large B-cell lymphoma.

Volaric AK et al.

Annals of Diagnostic Pathology, 2024

IRF8-mutant B cell lymphoma evades immunity through a CD74-dependent deregulation of antigen processing and presentation in MHCII complexes.

Qiu Z et al.

Science Advances, 2024

38996030 (PubMed )
Supplement: sciadv.adk2091_sm.pdf

IRF8-mutant B cell lymphoma evades immunity through a CD74-dependent deregulation of antigen processing and presentation in MHC CII complexes.

Qiu Z et al.

Biorxiv : the Preprint Server for Biology, 2023

Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients.

Jiménez-Ubieto A et al.

Frontiers in Immunology, 2023

37342332 (PubMed )
Supplement: Table_2.xlsx › Sheet1

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

Waller RG et al.

Human Molecular Genetics, 2021

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

Sheng L et al.

Bmc Medical Genetics, 2019

Clinical resistance to crenolanib in acute myeloid leukemia due to diverse molecular mechanisms.

Zhang H et al.

Nature Communications, 2019

30651561 (PubMed )
Supplement: 41467_2018_8263_MOESM5_ESM.xlsx › Supplementary_Data_2

Biallelic mutations in IRF8 impair human NK cell maturation and function.

Mace EM et al.

The Journal of Clinical Investigation, 2017

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

Szymanski EP et al.

American Journal of Respiratory and Critical Care Medicine, 2015

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

21983784 (PubMed )
Supplement: NIHMS335188-supplement-1.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."