Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.C115R
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JAK3

NM_000215.4:p.C115R

Associated Papers

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Cowan RW et al.

Clinical and Translational Gastroenterology, 2021

34797250 (PubMed )
Supplement: ct9-12-e00431-s006.xlsx › SDC6

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

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."