Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.Q114*
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XIAP

NM_001167.4:p.Q114*

Associated Papers

Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion.

Abdrabou SSMA et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

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

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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."