Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.K733fs
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JAK3

NM_000215.4:p.K733fs

Associated Papers

Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.

Schumacher RF et al.

The Israel Medical Association Journal : Imaj, 2002

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.

Notarangelo LD et al.

Immunological Reviews, 2000

Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.

Candotti F et al.

Springer Seminars in Immunopathology, 1998

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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."