Varaico: Literature-Extracted Genetic Variants

Gene:IL2RG
Variant:p.E327K
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IL2RG

NM_000206.3:p.E327K

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

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J et al.

Frontiers in Immunology, 2019

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.

Kato T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

40457861 (PubMed )
Supplement: PED-67-e70085-s003.xlsx › TableS3
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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."