Hermansky-Pudlak syndrome type2
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP374249
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资源简介：
This study investigated a Chinese 13-year-old girl with severe periodontitis who was diagnosed as HPS2 by peripheral blood analysis, Transmission electron microscopy (TEM) analysis and genetic analysis. By using whole-exome sequencing (WES), potential pathogenic variants were explored. Variants were screened and filtered through bioinformatic analysis and prediction of variant pathogenicity. Cosegregation was subsequently conducted.
创建时间：
2025-05-31
