Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R394H
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WT1

NM_024426.6:p.R394H

Associated Papers

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

Clonal replacement and heterogeneity in breast tumors treated with neoadjuvant HER2-targeted therapy.

Caswell-Jin JL et al.

Nature Communications, 2019

30737380 (PubMed )
Supplement: 41467_2019_8593_MOESM6_ESM.xlsx › SuppData3B

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

Büscher AK et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

Royer-Pokora B et al.

American Journal of Medical Genetics. Part A, 2004

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

Schumacher V et al.

Kidney International, 1998

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

Jeanpierre C et al.

American Journal of Human Genetics, 1998

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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."