Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.R103C
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JAK3

NM_000215.4:p.R103C

Associated Papers

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

The clinical utility of rapid exome sequencing in a consanguineous population.

Monies D et al.

Genome Medicine, 2023

Cancer carrier screening in the general population using whole-genome sequencing.

Chang YS et al.

Cancer Medicine, 2023

35861108 (PubMed )
Supplement: CAM4-12-1972-s008.xlsx › Table_S5

Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child.

Wang X et al.

Human Mutation, 2023

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Jian M et al.

Clinical and Translational Medicine, 2022

SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease.

Al-Saud B et al.

Journal of Clinical Immunology, 2021

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J et al.

Frontiers in Immunology, 2019

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_table_10

Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Suhaimi SS et al.

Frontiers in Pharmacology, 2018

30057548 (PubMed )
Supplement: Data_Sheet_1.xls › Supplementary_Table_S5

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Luk ADW et al.

Frontiers in Immunology, 2017

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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."