Varaico: Literature-Extracted Genetic Variants

Gene:TRIM28
Variant:p.R230*
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TRIM28

NM_005762.3:p.R230*

Associated Papers

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant-A first report.

Whitworth J et al.

European Journal of Human Genetics : Ejhg, 2024

TRIM28 inactivation in epithelial nephroblastoma is frequent and often associated with predisposing TRIM28 germline variants.

Wegert J et al.

The Journal of Pathology, 2024

TRIM28 variants and Wilms' tumour predisposition.

Hol JA et al.

The Journal of Pathology, 2021

Recent advances in Wilms' tumor predisposition.

Maciaszek JL et al.

Human Molecular Genetics, 2020

TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Moore C et al.

Cold Spring Harbor Molecular Case Studies, 2020

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Mahamdallie S et al.

The Lancet. Child & Adolescent Health, 2019

A unique subset of low-risk Wilms tumors is characterized by loss of function of TRIM28 (KAP1), a gene critical in early renal development: A Children's Oncology Group study.

Armstrong AE et al.

Plos One, 2018

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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."