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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL2RG

Variant:p.T47insFs

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IL2RG

NM_000206.3:p.T47insFs

hg38:chrX:71111024 C>CAG

Associated Papers

Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.

Fayyaz H et al.

Molecular Biology Reports, 2024

38355773 (PubMed )

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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."