Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.K448_L449insC
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XIAP

NM_001167.4:p.K448_L449insC

Associated Papers

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

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

Yang X et al.

Journal of Clinical Immunology, 2015

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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."