Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.R140Q
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PAX5

NM_016734.3:p.R140Q

Associated Papers

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

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Gofin Y et al.

Human Mutation, 2022

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

Additional mutations in IDH1/2-mutated patients with acute myeloid leukemia.

Lu J et al.

International Journal of Laboratory Hematology, 2021

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

Li J et al.

Frontiers of Medicine, 2021

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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."