Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.S241I
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IL2RG

NM_000206.3:p.S241I

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

Novel somatic alterations underlie Chinese papillary thyroid carcinoma.

Yang C et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

32065787 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-191200.xlsx › Table_S5

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

[Clinical advance of atypical severe combined immunodeficiency].

Du H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.

Zhang C et al.

World Journal of Pediatrics : Wjp, 2013

[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].

Zhang ZY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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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."