Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.T479T
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WT1

NM_024426.6:p.T479T

Associated Papers

[A case of 46,XX testicular disorders of sex development due to an apparent synonymous variant in the WT1 gene: difficulties of differential diagnosis of intrauterine virililzation syndrome in a girl].

Buianova AA et al.

Problemy Endokrinologii, 2024

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

Smith C et al.

Genome Biology, 2023

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

Smith C et al.

Kidney International Reports, 2023

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

Smith C et al.

Biorxiv : the Preprint Server for Biology, 2023

A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9.

Sirokha D et al.

Biology, 2021

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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."