Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.W237R
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IL2RG

NM_000206.3:p.W237R

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

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

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.

Recher M et al.

Blood, 2011

Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.

Gilmour KC et al.

British Journal of Haematology, 2001

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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."