Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.C458Y
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WT1

NM_024426.6:p.C458Y

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

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

Glénisson M et al.

Kidney International Reports, 2025

40303223 (PubMed )
Supplement: mmc1.pdf

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report.

Ko YJ et al.

Jpma. the Journal of the Pakistan Medical Association, 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

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

Chen H et al.

Frontiers in Pediatrics, 2023

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma.

Arya S et al.

Endocrine Connections, 2021

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.

Vaisitti T et al.

Journal of Nephrology, 2021

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Baxter RM et al.

The Journal of Clinical Endocrinology and Metabolism, 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."