Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R103H
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JAK3

NM_000215.4:p.R103H

Associated Papers

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Marakhonov A et al.

Frontiers in Immunology, 2026

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S1

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Whole-exome sequencing of T- B+ severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.

El Hawary R et al.

Clinical and Experimental Immunology, 2021

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Dasouki M et al.

Clinical and Experimental Immunology, 2020

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C et al.

Frontiers in Immunology, 2019

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

Al-Mousa H et al.

Frontiers in Immunology, 2018

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."