Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R467Q
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WT1

NM_024426.6:p.R467Q

Associated Papers

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.

Annicchiarico Petruzzelli L et al.

Cen Case Reports, 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

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

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

Tian C et al.

Science Bulletin, 2025

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

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

Glénisson M et al.

Kidney International Reports, 2025

40303223 (PubMed )
Supplement: mmc1.pdf

Single-cell DNA sequencing reveals pervasive positive selection throughout preleukemic evolution.

Poon G et al.

Cell Genomics, 2025

39842433 (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

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

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS12-sc-vaf

Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.

Tseng MH et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 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

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

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

Best S et al.

Journal of Medical Genetics, 2022

34716235 (PubMed )
Supplement: jmedgenet-2021-108065supp001.pdf

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

Nagano C et al.

Kidney International Reports, 2021

34386660 (PubMed )
Supplement: mmc1.pdf
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