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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:JAK3

Variant:p.E481V

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JAK3

NM_000215.4:p.E481V

hg38:chr19:17838390 T>A

Associated Papers

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Candotti F et al.

Blood, 1997

9354668 (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."