Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.S483Splc
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WT1

NM_024426.6:p.S483Splc

Associated Papers

Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis.

Inoue S et al.

Clinical and Experimental Nephrology, 2024

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

Smith C et al.

Kidney International Reports, 2023

Frasier syndrome: four new cases with unusual presentations.

Guaragna MS et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.

Miyoshi Y et al.

Endocrine Journal, 2006

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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."