Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.M1V
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XIAP

NM_001167.4:p.M1V

Associated Papers

Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.

Bramuzzo M et al.

European Journal of Pediatrics, 2024

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

Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease.

Chang I et al.

Journal of Crohn's & Colitis, 2021

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.

Ono S et al.

Journal of Clinical Immunology, 2017

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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."