Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.G247_S248insFs
Back to variants list

IL2RG

NM_000206.3:p.G247_S248insFs

Associated Papers

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Rispoli F et al.

Diagnostics (basel, Switzerland), 2021

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.

Cirillo E et al.

Frontiers in Immunology, 2019

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Luk ADW et al.

Frontiers in Immunology, 2017

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."