Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.E567_S568Splc
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JAK3

NM_000215.4:p.E567_S568Splc

Associated Papers

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD et al.

Human Mutation, 2001

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Mella P et al.

Human Mutation, 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."