Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.S278*
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XIAP

NM_001167.4:p.S278*

Associated Papers

Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult.

Nazarali S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2025

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Crowley E et al.

Gastroenterology, 2020

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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."