Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R476W
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WT1

NM_024426.6:p.R476W

Associated Papers

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

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

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.

Edmondson AC et al.

The Journal of Clinical Investigation, 2009

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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."