Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R549*
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JAK3

NM_000215.4:p.R549*

Associated Papers

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Methods.pdf

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.

Al Sukaiti N et al.

Frontiers in Immunology, 2020

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.

Shahbazi Z et al.

Immunology Letters, 2019

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s010.xlsx › SNV
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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."