Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.L129_D130delFs
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XIAP

NM_001167.4:p.L129_D130delFs

Associated Papers

Expanding clinical spectrum of female X-linked lymphoproliferative syndrome 2.

Suryaprakash S et al.

Pediatric Blood & Cancer, 2021

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.

Sasahara Y et al.

Frontiers in Immunology, 2021

Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Uchida T et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic.

Xu T et al.

European Journal of Pediatrics, 2020

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Ono S et al.

International Journal of Hematology, 2018

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

Marsh RA et al.

Blood, 2013

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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."