Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R142C
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JAK3

NM_000215.4:p.R142C

Associated Papers

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."