Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R467L
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WT1

NM_024426.6:p.R467L

Associated Papers

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.

Poyrazoglu S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026

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

Tian C et al.

Science Bulletin, 2025

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 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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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."