Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.V585L
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JAK3

NM_000215.4:p.V585L

Associated Papers

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.

Tsilifis C et al.

Journal of Clinical Immunology, 2024

38598033 (PubMed )
Supplement: 10875_2024_1699_MOESM1_ESM.pdf

Advanced HCC with amplified mesenchymal epithelial transition factor receptor responds well to savolitinib: a case report.

Yan N et al.

Frontiers in Medicine, 2023

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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."