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Article

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis

24 Feb 2025

Abstract excerpt

BACKGROUNDS: To reveal rare genetic factors that cause susceptibility to idiopathic granulomatous mastitis (IGM). METHODS: Whole exome sequencing (WES) was performed in 30 patients with histopathologically diagnosed idiopathic granulomatous mastitis. WES analysis mainly focused on 317 genes linked to autoimmunity, autoinflammation, and immune dysregulation. RESULTS: A total of 141 variants were detected in 100...

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PMID: 39992598
DOI: 10.1007/s10067-025-07343-w

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