Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R467W
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WT1

NM_024426.6:p.R467W

Associated Papers

Strategies for identifying NUP98 rearrangements in adult myeloid neoplasms.

Yuen LD et al.

Haematologica, 2026

40820841 (PubMed )
Supplement: 2025_288080_YUEN_TABLES_SUPPL.xlsx › Suppl_table_2_all_mutations

Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.

Li N et al.

Pediatric Nephrology (berlin, Germany), 2026

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Integrative scATAC-seq and mtDNA mutation analysis reveals disease-driven regulatory aberrations in AML.

Tian C et al.

Science Bulletin, 2025

WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center Practice.

Janek A et al.

International Journal of Molecular Sciences, 2025

Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children.

Glénisson M et al.

Kidney International Reports, 2025

40303223 (PubMed )
Supplement: mmc1.pdf

A review of the genetic background in complicated WT1-related disorders.

Nagano C et al.

Clinical and Experimental Nephrology, 2025

Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.

Nguyen TTT et al.

Frontiers in Pediatrics, 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

Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes.

van Peer SE et al.

Kidney International Reports, 2024

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

Association of Atypical Hemolytic Uremic Syndrome With Wilms' Tumor 1 Gene Mutations: A Case Series and Literature Review.

Al Zabali S et al.

Cureus, 2024

Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.

Torban E et al.

American Journal of Physiology. Renal Physiology, 2024

Clonal dynamics and copy number variants by single-cell analysis in leukemic evolution of myeloproliferative neoplasms.

Calabresi L et al.

American Journal of Hematology, 2023

High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome.

Smith C et al.

Kidney International Reports, 2023

37850022 (PubMed )
Supplement: mmc1.pdf

A case of Potter sequence with WT1 mutation.

Yoshino M et al.

Cen Case Reports, 2023

Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children.

Chen H et al.

Frontiers in Pediatrics, 2023

Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review.

Li Y et al.

Bmc Pediatrics, 2022

Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children.

Bezdicka M et al.

Scientific Reports, 2022

Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Falcone MP et al.

Pediatric Nephrology (berlin, Germany), 2022

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.

Najafi M et al.

Frontiers in Pediatrics, 2022

A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.

Mason AE et al.

Pediatric Nephrology (berlin, Germany), 2021

Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants.

Nagano C et al.

Kidney International Reports, 2021

Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.

Matsuoka D et al.

Bmc Nephrology, 2020

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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."