Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.C565*
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JAK3

NM_000215.4:p.C565*

Associated Papers

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Strand J et al.

Frontiers in Immunology, 2020

Graft versus host disease and microchimerism in a JAK3 deficient patient.

Shahbazi Z et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019

Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review.

Zhong L et al.

Medicine, 2017

Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs.

Pesu M et al.

Immunological Reviews, 2005

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.

Roberts JL et al.

Blood, 2004

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD et al.

Human Mutation, 2001

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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."