Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.W323*
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XIAP

NM_001167.4:p.W323*

Associated Papers

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammation.

Strigli A et al.

Science Immunology, 2021

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn's Disease.

Amininejad L et al.

Gastroenterology, 2018

2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2017

Refractory monogenic Crohn's disease due to X-linked inhibitor of apoptosis deficiency.

Coelho R et al.

International Journal of Colorectal Disease, 2016

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Kelsen JR et al.

Bmc Gastroenterology, 2015

XIAP variants in male Crohn's disease.

Zeissig Y et al.

Gut, 2015

Inhibitors of apoptosis (IAPs) regulate intestinal immunity and inflammatory bowel disease (IBD) inflammation.

Pedersen J et al.

Trends in Molecular Medicine, 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."