Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.I494N
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XIAP

NM_001167.4:p.I494N

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

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW et al.

Journal of Molecular Modeling, 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

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.

Damgaard RB et al.

Embo Molecular Medicine, 2013

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes.

Marsh RA et al.

Blood, 2013

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.

Marsh RA et al.

Blood, 2010

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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."