Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.R49*
Back to variants list

XIAP

NM_001167.4:p.R49*

Associated Papers

Rapid flow cytometric diagnosis of XIAP deficiency.

Wakatsuki R et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2026

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.

Quaranta M et al.

Gastroenterology, 2018

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."