Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.H220Y
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XIAP

NM_001167.4:p.H220Y

Associated Papers

Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease.

Lee J et al.

Scientific Reports, 2024

Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.

Chirieleison SM et al.

The Journal of Biological Chemistry, 2017

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Aguilar C et al.

The Journal of Allergy and Clinical Immunology, 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."