Varaico: Literature-Extracted Genetic Variants

Gene:IFNGR1
Variant:p.L287_I288Splc
Back to variants list

IFNGR1

NM_000416.3:p.L287_I288Splc

Associated Papers

Alternative Splicing as a Modulator of the Interferon-Gamma Pathway.

Suri P et al.

Cancers, 2025

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Zhang P et al.

Journal of Clinical Immunology, 2021

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."