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Article

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Frontiers in endocrinology - 1 Jan 2025

Kan Wen, Wang Yunyang, Xue Yu, Zhang Xiaoying, Xu Lili

Abstract excerpt

Objective: To describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case. This report aims to contribute to the phenotypic and genotypic spectrum of WFS1-related disorders and to discuss the challenges of interpreting VUS in complex clinical scenarios. Methods: Clinical data were collected from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41613956
DOI: 10.3389/fendo.2025.1743282
PMCID: PMC12846941

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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