Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.P893L
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JAK3

NM_000215.4:p.P893L

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

Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial.

Ascierto PA et al.

Nature Communications, 2024

38167503 (PubMed )
Supplement: 41467_2023_44475_MOESM1_ESM.pdf

Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.

Zou J et al.

Frontiers in Neurology, 2023

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.

Kantaputra P et al.

Genes, 2022

Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.

Liang Y et al.

Plos Genetics, 2022

36095024 (PubMed )
Supplement: pgen.1010373.s022.xlsx › S7_Table

IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Li Q et al.

Frontiers in Oncology, 2022

35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC
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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."