Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.K299fs
Back to variants list

XIAP

NM_001167.4:p.K299fs

Associated Papers

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

Delayed Diagnosis of X-linked Lymphoproliferative Syndrome Type 2 in a 17-year-old Male With Severe Crohn's Disease and Recurrent Skin Infections.

Zacharias SA et al.

Jpgn Reports, 2021

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.

Schwerd T et al.

Gut, 2017

26953272 (PubMed )
Supplement: gutjnl-2015-310382supp001.pdf
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."