Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.R38H
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PAX5

NM_016734.3:p.R38H

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

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

IGH::IL3-Rearranged B-Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant.

Urbański B et al.

Genes, Chromosomes & Cancer, 2025

A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.

Martínez Anaya D et al.

Biomedicines, 2025

Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.

Stoltze U et al.

Leukemia, 2025

Copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia patients and their association with patients' outcome.

Abdelfattah NE et al.

Annals of Hematology, 2025

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene.

Gu H et al.

Genetics in Medicine Open, 2025

Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications.

Ramírez Maldonado V et al.

Cancers, 2024

Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation.

Bettini LR et al.

Leukemia, 2024

Genomic Determinants of Outcome in Acute Lymphoblastic Leukemia.

Chang TC et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2024

Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico.

García-Solorio J et al.

Frontiers in Oncology, 2024

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia.

van Engelen N et al.

Leukemia, 2023

Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.

Leongamornlert D et al.

Blood Advances, 2023

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab C et al.

Leukemia, 2023

36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants.

Escudero A et al.

Leukemia, 2022

Genetic Biomarkers and Their Clinical Implications in B-Cell Acute Lymphoblastic Leukemia in Children.

Lejman M et al.

International Journal of Molecular Sciences, 2022

PAX5 alterations in B-cell acute lymphoblastic leukemia.

Jia Z et al.

Frontiers in Oncology, 2022

Molecular Genetics of Pre-B Acute Lymphoblastic Leukemia Sister Cell Lines during Disease Progression.

Quentmeier H et al.

Current Issues in Molecular Biology, 2021

Application of Next-Generation Sequencing-Based Mutational Profiling in Acute Lymphoblastic Leukemia.

Aleem A et al.

Current Hematologic Malignancy Reports, 2021

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia.

Li J et al.

Frontiers of Medicine, 2021

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S1.2_Overall_SNV_small_indels

PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia.

Bastian L et al.

Leukemia, 2019

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.

Gu Z et al.

Nature Genetics, 2019

Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Hou H et al.

Oncotarget, 2017

29285234 (PubMed )
Supplement: oncotarget-08-105072-s002.xlsx › Data

One missense mutation in exon 2 of the PAX5 gene in Iran.

Yazdanparast S et al.

Genetics and Molecular Research : Gmr, 2015

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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."