Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.E219K
Back to variants list

XIAP

NM_001167.4:p.E219K

Associated Papers

De novo variants in immune regulatory genes in Down syndrome regression disorder.

Jafarpour S et al.

Journal of Neurology, 2024

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.

Bąbol-Pokora K et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2021

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Rigaud S et al.

Blood, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."