Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.L57H
Back to variants list

IL2RG

NM_000206.3:p.L57H

Associated Papers

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Vogt G et al.

Nature Genetics, 2005

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."