PARN mutation
收藏NIAID Data Ecosystem2026-03-12 收录
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资源简介：
A 23-year-old student presented with a four-year history of progressive cough and exertional dyspnea. Physical examination was remarkable for typical mucocutaneous abnormalities. Chest computerized tomography scan revealed interstitial fibrosis. A heterozygous missense mutation located in exon 22 of PARN gene was identified in the patient by whole exome sequencing and was verified with Sanger sequencing.
创建时间：
2021-08-12
