Whole-exome sequencing of a patient with PASH syndrome
收藏NIAID Data Ecosystem2026-05-02 收录
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资源简介：
This study aims to analyze genetic variants in a PASH syndrome patient via whole-exome sequencing, identifying potential pathogenic mutations and their molecular mechanisms. Significance: PASH syndrome is a rare autoinflammatory disorder with unclear genetic basis. The findings may offer new insights for diagnosis and targeted therapy.
创建时间：
2025-07-29
