Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.Q283*
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XIAP

NM_001167.4:p.Q283*

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Epstein Barr virus-mediated transformation of B cells from XIAP-deficient patients leads to increased expression of the tumor suppressor CADM1.

Engelmann C et al.

Cell Death & Disease, 2022

36270981 (PubMed )
Supplement: 41419_2022_5337_MOESM8_ESM.xlsx › Sheet1

Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency.

Ono S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2021

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.

Sasahara Y et al.

Frontiers in Immunology, 2021

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Uchida T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.

Suzuki T et al.

Journal of Clinical Immunology, 2017

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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."