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Article

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

Clinical and experimental nephrology - 1 Nov 2024

Inoue Seiya, Kondo Atsushi, Inoki Yuta, Ichikawa Yuta, Tanaka Yu, Ueda Chika, Kitakado Hideaki, Suzuki Ryota, Okada Eri, Sakakibara Nana, Horinouchi Tomoko, Nozu Kandai

Abstract excerpt

BACKGROUND: Wilms tumor 1 (WT1; NM_024426) causes Denys-Drash syndrome, Frasier syndrome, or isolated focal segmental glomerulosclerosis. Several WT1 intron variants are pathogenic; however, the pathogenicity of some variants remains undefined. Whether a candidate variant detected in a patient is pathogenic is very important for determining the therapeutic options for the patient. METHODS: In this study, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38877226
DOI: 10.1007/s10157-024-02510-w
PMCID: PMC11568005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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